Neurology/Mitochondrial Genetics

Epilepsy & Neurodevelopmental Testing

Autism/ID Xpanded Panel

Forms and Documents

Test Requisition Test Info Sheet ASD/ID Gene List

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with autism or intellectual disability
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

952
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81302x1, 81321x1, 81404x2, 81405x2, 81406x2, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. CDC (Centers for Disease Control and Prevention) (2014) Morbidity and Mortality Weekly Report 63(SS02) 1-21; www.cdc.gov/mmwr
  2. Mefford et al., (2012) NEJM 366(8): 733-743 (PMID: 22356326)
  3. Miller et al.., (2010) Am J Hum Genet 86(5): 749-64 (PMID 20466091)
  4. Schaefer et al., (2013) Genet Med 15(5): 399-407 (PMID: 23519317)
  5. Farwell et al. (2015) Genet. Med. 17 (7):578-86 (PMID: 25356970)
  6. Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
  7. Posey et al. (2015) Genet. Med. : (PMID: 26633545)
  8. Retterer et al. (2015) Genet. Med. : (PMID: 26633542)
  9. Wright et al. (2015) Lancet 385 (9975):1305-14 (PMID: 25529582)
  10. Lopez-Rangel et al., (2008) Br J Dev Disabil 54: 69-82 (no PMID)
  11. Fitzgerald et al. (2015) Nature 519 (7542):223-8 (PMID: 25533962)
  12. McKnight D, Retterer K, Juusola J, Brandt T, Richard G, and Suchy S, Genetic Testing Strategies for Patients with Epilepsy and Neurodevelopmental Disorders; (Abstract #562). Presented at the 2015 ACMG Annual Clinical Genetics Meeting, March 27, 2015, Salt
  13. Yang et al. (2014) JAMA 312 (18):1870-9 (PMID: 25326635)
EpiXpanded Panel

Forms and Documents

Test Requisition Test Info Sheet EpiXpanded Gene List Genes & Phenotypes

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

921
6 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81404x4, 81405x3, 81406x2, 81407x1, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Pong et al. (2011) Pediatric Neurology 44 (5):317-27 (PMID: 21481738)
  2. Dyment et al. (2014) Clinical Genetics : (PMID: 25046240)
  3. Michaud et al. (2014) Human Molecular Genetics 23 (18):4846-58 (PMID: 24781210)
  4. Veeramah et al. (2013) Epilepsia 54 (7):1270-81 (PMID: 23647072)
  5. Allen et al. (2013) Nature 501 (7466):217-21 (PMID: 23934111)
  6. EuroEPINOMICS-RES et al. American Journal Of Human Genetics 95 (4):360-370 (PMID: 25262651)
  7. Lee et al. (2014) Jama 312 (18):1880-7 (PMID: 25326637)
  8. McKnight D, Retterer K, Juusola J, Brandt T, Richard G, and Suchy S, Genetic Testing Strategies for Patients with Epilepsy and Neurodevelopmental Disorders; (Abstract #562). Presented at the 2015 ACMG Annual Clinical Genetics Meeting, March 27, 2015, Salt
Chromosomal Microarray (GenomeDx®)

Forms and Documents

Test Requisition Test Info Sheet Medical Necessity Template

Test Details

  • Confirmation of clinical diagnosis
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Whole-genome Array CGH

Ordering

910
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81228x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Marshall CR et al., Am J Hum Genet. 2008; 82:477-88
  2. Jacquemont ML et al., J Med Genet 2006; 43:843-849
  3. Charman et al. Eur J Hum Genet 2005 13(10):1121-30
  4. Carney et al., (2003) Pediatr Neurol 28:205-211
  5. Scala et al., Am J Med Genet A. 2007; 43:2275-2784
  6. Archer et al., J Med Genet 2006 May;43(5):451-6
  7. Van Esch H. et al. Am J Hum Genet 77,:442-453, 2005
  8. delGaudio et al., Genet Med 2006; 8(12):784-792
  9. Cohen D et al., J Aut Dev Dis 2005; 35:103-1116
  10. Archer HL et al. J. Med. Genet. 43: 729-734, 2006
  11. Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
  12. Weaving LS et al., Am J Hum Genet (2004) 75:1079-1093
  13. American College of Medical Genetics: Paper Outlines Approach To Genetic Diagnosis. In: Medical New Today Feb7, 2008
  14. Mental health in the United States: Parental report of diagnosed autism in children aged 4-17 years-United States, 2003-2004. MMWR Morb Mortal Wkly Rep 2006; 55(17):481-486. 2006
  15. Fombonne E. J Clin Psychiatry 2005; 66 Suppl. 10:3-8
  16. Fombonne et al., J Autism Dev Disord. 1999;29(2):113-9
  17. Shaefer GB & Mendelssohn NJ. Genet Med 2008; 10:4-12
  18. Shaefer GB & Lutz RE. Genet Med 2006; 8:549-556
  19. Abrahams BS & Geschwind DH. Nat Genet Rev 2008; 9:341-355
  20. Herman et al. Genet Med 2007:9:258-274
  21. Butler et al., J Med Genet 2005:42:318-321
  22. Abdul-Rahman et al., Genet Med 2006:8:50-54
STAT Epilepsy Panel

Forms and Documents

Test Requisition Test Info Sheet LOMN

Test Details

ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SPTAN1, STXBP1, TSC1, TSC2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

814
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x3, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ottman et al., (2010) Epilepsia 51:655-670.
  2. Pong et al., (2011) Pediatr Neurol 44:317-327.
  3. Nicita et al., (2011) Seizure: Eur J Epilepsy doi:10.1016/j.seizure.2011.08.007
  4. Zucca et al., (2008) Arch Neurol 65:489-494.
  5. Harkin et al., (2007) Brain 130:843-852.
  6. Higurashi et al., (2011) Epilepsy Res dio:10.1016/j.eplepsyres.2011.10.014.
  7. Depienne et al., (2009) Plos Genet 5(2):e1000381.
  8. Marini et al., (2010) Neurology 75:646-653.
  9. Hynes et al., (2010) J Med Genet 47:211-216.
  10. Depienne et al., (2010) Hum Mutat 32:E1959-E1975.
  11. Weckhuysen et al., (2012) Ann Neurol 71:15-25.
  12. Carvill et al., (2014) Neurol 82:1245-1253.
  13. Mills et al., (2010) Brain 133:2148-2159.
  14. Nguyen et al., (2006) J Hepatol 45:108-116.
  15. Isohanni et al., (2011) Neurol 76:811-815.
  16. Hunter et al., (2011) Pediatr Neurol 45:311-318.
  17. Kamiya et al., (2004) J Neurosci 24(11):2690-2698.
  18. Ogiwara et al., (2009) Clin Genet 73(13):1046-1053.
  19. Veeramah et al., (2012) Am J Hum Genet 90:502-510.
  20. Saitsu et al., (2010) Am J Hum Genet 886:881-891.
  21. Gospe et al., (2010) Chang Gung Med 33:1-12.
  22. Li et al., (2006) J Hum Genet 52:38-47.
  23. Tao et al., (2004) Am J Hum Genet 75:1149-1154.
  24. Rosas-Vargas et al., (2008) J Med Genet 45:172-178.
  25. Zweier et al., (2010) Hum Mutat 31:722-733.
  26. Grapp et al., (2012) Brain 135:2022-2031.
  27. EpiPM Consortium (2015) Lancet Neurol 14:1219–28.
  28. Wirrell et al., (2015) Epilepsia 56(4):617–625 3
Tuberous Sclerosis Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TSC1, TSC2
  • Confirmation of a clinical diagnosis
  • Carrier testing for individuals with a known familial TSC1 or TSC2 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

730
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x2, 81407x1
Yes
Yes
  • 780.39 Other convulsions Convulsive disorder NOS Fits NOS Recurrent convulsions NOS Seizure NOS Seizures NOS
  • 759.5 Tuberous sclerosis Bourneville's disease Epiloia
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Northrup H, Koenig MK, Au KS. Tuberous Sclerosis Complex. 1999 Jul 13 [Updated 2015 Sep 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet].
  2. Roach and Sparagano (2004) J Child Neurol 19:643-649.
  3. Rose et al., (1999) Am J Hum Genet 64:986-992. Qin et al., (2010) Hum Genet 127:573-582.
  4. Mayer et al., (2013) Eur J Hum Genet e1–e4; doi:10.1038/ejhg.2013.129.
  5. Kozlowski et al., (2007) Hum Genet 121:389-400.
  6. Jones et al., (1999) Am J Hum Genet 64:1305-1315.
  7. Dabora et al., (2001) Am J Hum Genet 68:64-80.
  8. Sancak et al., (2005) Eur J Hum Genet 13:731-741.
  9. Au et al., (2007) Genet Med 9:88-100.
Rett/Angelman Syndrome Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CDKL5, CNTNAP2, FOXG1, MBD5, MECP2, MEF2C, NRXN1, SLC9A6, TCF4, UBE3A, WDR45, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • MLPA
  • Next-Gen Sequencing

Ordering

729
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x2, 81406x3
Yes
Yes
  • 315.3 Developmental speech or language disorder
  • 345.9 Epilepsy, unspecified [0-1] Epileptic convulsions, fits, or seizures NOS Recurrent seizures NOS Seizure disorder NOS Excludes: convulsion (convulsive) disorder (780.39) convulsive seizure or fit NOS (780.39) recurrent convulsions (780.39)
  • 299 Pervasive developmental disorders
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. de Siquiera et al., (2010) J Neurol 257:1612-1619
  2. Shawan et al., (2005) Lancet Neurol 4:239-248.
  3. Jansen and Andermann (Updated December 2007). Progressive Myoclonic Epilepsies, Lafora Type. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http:
  4. Lehesjoki and Kalviainan (Updated June 2009) Unverricht-Lundborg Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
  5. Mole and Williams (Updated March 2010). Neuronal Ceroid Lipofuscinosis. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  6. Bennett S. (2004) Pharmacogenomics 5:433-8.
  7. Das et al., (1998) J Clin Invest 102:361-370. 8. Sleat et al., (1999) Am J Hum Genet 64:1511-1523.
  8. Munroe et al., (1997) Am J Hum Genet 61:310-316.
  9. Noskova et al., (2011) Am J Hum Genet 89:241-252.
  10. Velinov et al., (2012) PloS One 7:e29729.
  11. Staropoli et al., (2012) Am J Hum Genet 91:202-208.
  12. Dibbens et al., (2009) Ann Neurol 66:532-536.
  13. Berkovic et al., (2008) Am J Hum Genet 82:673-684.
  14. Corbett et al., (2011) Am J Hum Genet 82:673-684.
  15. Lomax et al., (2013) Brain 136:1146-1154.
  16. Grapp et al., (2012) Brain 135:2022-2031.
Progressive Myoclonic Epilepsy Panel

Forms and Documents

Test Info Sheet Test Requisition Epilepsy Guide LOMN

Test Details

CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, DNAJC5, EPM2A, FOLR1, GOSR2, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1 (CLN2)
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

544
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x2, 81479x14
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
  2. Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
  3. Bennett S. Pharmacogenomics (2004) 5:433-8.
  4. Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
  5. Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
  6. Andrade DM. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brains. Hum Genet (2009) 126:173-193.
  7. Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
  8. Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
  9. Nicita et al., The genetics of monogenic idiopathic epilepsies and epileptic encephalopathy Seizure: Eur J Epilepsy (2011) doi:10.1016/j.seizure.2011.08.007
  10. Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
  11. Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327
  12. Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
  13. Berg et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commision on Classification and Terminology, 2005- 2009. Epilepsia (2010) 51: 676-685.
Childhood-Onset Epilepsy Panel

Forms and Documents

Test Info Sheet Test Requisition Epilepsy Guide LOMN

Test Details

ADSL, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, IQSEC2, KANSL1, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PNKP, POLG, PPT1, PRICKLE1, SCN1A, SCN1B, SCN2A, SLC2A1, SLC6A8, SLC9A6, TBC1D24, TCF4, TPP1 (CLN2), UBE3A, WDR45, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

542
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x2, 81406x2, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Berg et al. (2010) Epilepsia 51: 676-685
  2. Pellock, JM (2004) Neurol (2004) 62:S17-S23.
  3. Pong et al., (2011) Pediatr Neurol 44:317-327.
  4. Weber et al., (2008) Dev Med Child Neurol 50:648-654.
  5. Nicita et al., (2011) Seizure: Eur J Epilepsy doi:10.1016/j.seizure.2011.08.007
  6. Ottman et al., (2010) Epilepsia 51:655-670.
  7. Pal et al., (2010) Nat Rev Neurol 6:445-453.
  8. Macdonald et al., (2010) J Physiol 588:1861-1869.
  9. Andrade DM (2009) Hum Genet 126:173-193
  10. Ramachandran et al., (2009) Epilepsia 50:29-36
  11. Steinlein et al., (2004) Nat Rev Neurosci 5:401-408.
  12. Bennett S. (2004) Pharmacogenomics 5:433-8.
  13. Falace et al., (2010) Am J Hum Genet 87:365-370.
Infantile Epilepsy Panel

Forms and Documents

Test Info Sheet Test Requisition Epilepsy Guide LOMN

Test Details

ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA7, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CTSD, DNM1, DYRK1A, EEF1A2, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRRT2, QARS, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

541
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x1, 81406x3, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Berg et al. (2010) Epilepsia 51: 676-685.
  2. Pellock, JM (2004) Neurol (2004) 62:S17-S23.
  3. Pong et al., (2011) Pediatr Neurol 44:317-327.
  4. Weber et al., (2008) Dev Med Child Neurol 50:648-654.
  5. Nicita et al., (2011) Seizure: Eur J Epilepsy doi:10.1016/j.seizure.2011.08.007
  6. Ottman et al., (2010) Epilepsia 51:655-670.
  7. Pal et al., (2010) Nat Rev Neurol 6:445-453
  8. Deprez et al., (2009) Neurol 72:273-281.
  9. Macdonald et al., (2010) J Physiol 588:1861-1869.
  10. Andrade DM (2009) Hum Genet 126:173-193.
Comprehensive Epilepsy Panel

Forms and Documents

Test Info Sheet Test Requisition Epilepsy Guide LOMN

Test Details

ADSL, ALDH7A1, ALG13, ARHGEF9, ARX, ATP1A2, ATP6AP2, CACNA1A, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DNAJC5, DNM1, DYRK1A, EEF1A2, EPM2A, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, STXBP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

523
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x4, 81407x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bennett S. Pharmacogenomics (2004) 5:433-8.
  2. Andrade DM. Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brains. Hum Genet (2009) 126:173-193.
  3. Macdonald et al. Mutations in GABA receptor subunits associated with genetic epilepsies. J Physiol (2010) 588:1861-1869.
  4. Ottman et al. Genetic testing in the epilepsies – Report of the ILAE Genetics Commission. Epilepsia (2010) 51:655-670.
  5. Weber et al., Genetic mechanisms in idiopathic epilepsy Dev Med Child Neurol (2008) 50:648-654.
  6. Nicita et al., The genetics of monogenic idiopathic epilepsies and epileptic encephalopathy Seizure: Eur J Epilepsy (2011) doi:10.1016/j.seizure.2011.08.007
  7. Deprez et al. Genetics of epilepsy syndromes starting in the first year of life. Neurology (2009) 72:273-281.
  8. Berg et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commision on Classification and Terminology, 2005- 2009. Epilepsia (2010) 51: 676-685.
  9. Ramachandran et al. The autosomal recessively inherited progressive myoclonus epilepsies and their genes Epilepsia (2009) 50:29-36.
  10. Steinlein et al. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci (2004) 5:401-408.
  11. Pal et al. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol (2010) 6:445-453
  12. Pellock, JM. Understanding co-morbidities affecting children with epilepsy. Neurol (2004) 62:S17-S23.
  13. Pong et al. Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist Pediatr Neurol (2011) 44:317-327
FMR1 CGG Repeat Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

FMR1
  • To differentiate fragile X syndrome from other causes of intellectual disability and autism spectrum disorders
  • Preconception/prenatal carrier testing for women with a personal or family history of fragile X syndrome, unexplained intellectual disability, autism spectrum disorders, or POI
  • Carrier testing for at-risk relatives
  • PCR Fragment Analysis

Ordering

522
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81243x1, 81244x1
No
Yes
  • 759.83 Fragile X syndrome
  • 781.3 Lack of coordination Ataxia NOS Muscular incoordination Excludes: ataxic gait (781.2) cerebellar ataxia (334.0-334.9) difficulty in walking (719.7) vertigo NOS (780.4)
  • 256.39 Other ovarian failure Delayed menarche Ovarian hypofunction Primary ovarian failure NOS
  • 299 Pervasive developmental disorders
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. McConkie-Rosell et al., (2005) J Genet Couns 14:249-270.
  2. Sherman et al., (2005) Genet Med 7:584-587.
  3. Pirozzi et al., (2011) Am J Med Genet A 155:1803-1816.
  4. Jacquemont et al., (2004) JAMA 291:460-469.
  5. Berry-Kravis et al., (2007) Movement Disord 14:2018-2030.
  6. Willemsen et al., (2011) Clin Genet [EPub ahead of print 2011 June 8].
  7. ACOG Committee Opinion Number 469 (2010) Obstet Gynecol 116:1008-1010.
  8. Hunter et al., (2009) Genet Med 11:79-89.
  9. Fernandez-Carvajal et al., (2009) J Molec Diag 11:306-210.
  10. Spector and Kronquist (2006) Technical Standards and Guidelines for Fragile X Testing: Supplement to Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Online: http://www.acmg.net/Pages/ACMG_Activities
  11. Crawford et al., (2001) Genet Med 3:359-371.
  12. Jacquemont et al., (2011) Eur J Hum Genet 19:doi:10.1038/ejhg.2011.55
Epilepsy Del/Dup Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ADSL, ALDH7A1, ALG13, ARHGEF9, ARID1B, ARX, ATP1A2, ATP6AP2, ATRX, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CSTB, CTSD, DNAJC5, DYRK1A, EEF1A2, EHMT1, EPM2A, FOLR1, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NHLRC1, NR2F1, NRXN1, OPHN1, PCDH19, PHF6, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, QARS, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC9A6, SMC1A, SPTAN1, STXBP1, SYNGAP1, TBC1D24, TCF4, TPP1 (CLN2), TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with epilepsy
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Exon Array CGH

Ordering

953
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81304x1, 81403x1, 81405x3, 81406x2
No
Yes
* For price inquiries please email zebras@genedx.com
Ataxia Xpanded Panel

Forms and Documents

Test Requisition Test Info Sheet Ataxia Xpanded Panel Gene List

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia
  • Next-Gen Sequencing

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81403x1, 81404x2, 81405x2, 81406x4, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
  2. Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
  3. Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
  4. Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
  5. Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
  6. Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
  7. Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
  8. Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
  9. Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
  10. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Neuromuscular Disorders Testing

C9ORF72 Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

C9ORF72
  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

J805
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Mackenzie et al. (2014) Acta Neuropathol. 127 (3):347-57 (PMID: 24356984)
  2. White et al. (2016) Curr. Opin. Neurol. 29 (5):557-64 (PMID: 27538057)
  3. Cruts M, Engelborghs S, van der Zee J, et al. C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. 2015 Jan 8. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seat
  4. Cruts et al. (2013) Trends Neurosci. 36 (8):450-9 (PMID: 23746459)
  5. van der Zee et al. (2013) Hum. Mutat. 34 (2):363-73 (PMID: 23111906)
  6. Gijselinck et al. (2016) Mol. Psychiatry 21 (8):1112-24 (PMID: 26481318)
  7. Akimoto et al. (2014) J. Med. Genet. 51 (6):419-24 (PMID: 24706941)
  8. Ross LF, Saal HM, David KL, Anderson RR; American Academy of Pediatrics; American College of Medical Genetics and Genomics. Technical report: Ethical and policy issues in genetic testing and screening of children. Genet Med. 2013 Mar;15(3):234-45.
  9. COMMITTEE ON BIOETHICS, COMMITTEE ON GENETICS, AND THE AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS SOCIAL, ETHICAL, AND LEGAL ISSUES COMMITTEE. POLICY STATEMENT. Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics. 201
  10. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 1995 Nov;57(5
  11. NSGC Executive Office. Genetic Testing of Minors for Adult-Onset Conditions Position Statement (Adopted 2012).
  12. AMA Code of Medical Ethics Opinion 2.138 - Genetic Testing of Children. Issued June 1996.
  13. Botkin JR et al. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. American Journal Of Human Genetics. 2015 Jul 02 97(1):6-21.2614044
Limb-Girdle Muscular Dystrophy Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ANO5, CAPN3, CAV3, DES, DMD, DNAJB6, DYSF, FKRP, FKTN, GAA, GMPPB, LMNA, MYOT, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRIM32, TTN
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

890
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x3, 81406x5, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Van der Kooi, A.J., et al. (2013). Neuromuscular Disord. 23, 456-460.
  2. Mitsuhashi, S., Kang, P.B. (2012). Semin. Pediatr. Neurol. 19, 211-218.
  3. Wicklund, M.P. (2013). Continuum (Minneap Minn) 19, 1535-1570.
  4. Pegoraro E, H.E. (2012 Aug 30). Limb-Girdle Muscular Dystrophy Overview - GeneReviews®
  5. Olivé, M., et al. (2013). Curr. Opin. Neurol. 26, 527-535.
  6. Greenberg, S.A., et al. (2012). Ann. Neurol. 71, 141-145.
  7. Harms, M.B., et al. (2012). Ann. Neurol. 71, 407-416.
  8. Aoki, M. (2010 Apr 22). Dysferlinopathy - GeneReviews® - NCBI Bookshelf, http://www.ncbi.nlm.nih.gov/books/NBK1303/.
  9. Blandin, G., et al. (2012). Hum. Mutat. 33, E2317-E2331.
  10. Clement, E.M., et al. (2012). Neuromuscular Disord. 22, 522-527.
Neuromuscular Disorders Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACTA1, ANO5, ATP2A1, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CAV3, CFL2, CHKB, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, LAMA2, LAMP2, LARGE, LDB3, LMNA, MEGF10, MTM1, MYH7, MYOT, NEB, PHKA1, PLEC, PLEKHG5, POMGNT1, POMT1, POMT2, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SYNE1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, UBA1, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

889
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x4, 81407x3, 81408x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Agrawal, et al. (2007). Am. J. Hum. Genet. 80, 162-167.
  2. Van der Kooi, A.J., et al. (2013). Neuromuscular Disord. 23, 456-460.
  3. Mitsuhashi, S., Kang, P.B. (2012). Semin. Pediatr. Neurol. 19, 211-218.
  4. Voermans, N.C., et al. (2012). Neuromuscular Disord. 22, 944-954.
  5. Stevens, E., et al. (2013) Am. J. Hum. Genet. 92: 354-365, 2013. (PubMed: 23453667)
  6. Hayashi, Y.K. (2011). Brain Nerve 63, 1179-1188.
  7. Olivé, M., et al. (2013). Curr. Opin. Neurol. 26, 527-535.
  8. Biancalana, et al. (2012). Eur. J. Hum. Genet. 20, 1101.
  9. Statland, J.M., Barohn, R.J. (2013). CONTINUUM Lifelong Learn. Neurol. 19, 1598-1614.
  10. Jungbluth, H., Wallgren-Pettersson, C. (2013). Emery and Rimoin\\\\\\\'s Principles and Practice of Medical Genetics, 1-51.
AR Repeat Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AR
  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

820
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Adachi et al. (2005) Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128:659-70.
  2. Atsuta et al. (2006). Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 129:1446-1455.
  3. Doyu et al. (1992). Severity of X-linked recessive bulbospinal neuronopathy correlates with size of tandem CAG repeat in androgen receptor gene. Ann Neurol 32:707-710.
  4. Grunseich & Fischbeck. (2013) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 20:6-9.
  5. Kennedy et al. (1968) Progressive proximal spinal and bulbar muscular atrophy of later onset: A sex –linked recessive trait. Neurology 18:671-680.
  6. Kuhlenbaumer et al. (2001) Thirty-seven CAG repeats in the androgen receptor gene in two health individuals. J Neurol 248:23-6.
  7. La Spada. (1999; Updated July 2014) Spinal and Bulbar Muscular Atrophy. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/b
  8. La Spada et al. (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 11:247-58.
  9. Li et al. (1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy 44: 249-254.
  10. Rhodes et al. (2009). Clinical features of spinal and bulbar muscular atrophy. Brain 157:290-294.
  11. Olney et al., (1991) Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy. Neuro 41: 823-8.
  12. Soraru et al. (2008) Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 264: 100-105.
  13. Tanaka et al. (1996) Founder effect in spinal and bulbar muscular atrophy (SBMA). Hum Mol Genet 5:1253-7.
CNBP Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CNBP
  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

819
3 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Arsenault et al. (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neuro 66:1248-50.
  2. Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/
  3. Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. 2006 Sep 21 [Updated 2013 Jul 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncb
  4. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657–64.
  5. Liquori et al. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Sci 293:864-7.
  6. Logigian et al. (2005) Quantitative analysis of the “warm-up” phenomenon in myotoc dysrphy type 1. Muscel Nerve 32:35-42.
  7. Sternberg D, Tabti N, Hainque B, et al. Hypokalemic Periodic Paralysis. 2002 Apr 30 [Updated 2009 Apr 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from
  8. Suominen et al. (2011). Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 19: 776-82.
  9. Udd et al. (2010) Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscl Disord 21: 443-50.
  10. Yotova et al. (2005) Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 117:177-87.
DMPK Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

DMPK
  • Molecular confirmation of a clinical diagnosis
  • PCR Fragment Analysis

Ordering

818
3 weeks
10-15 mL Blood - Lavender Top Tube

Billing

81401x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Arsenault et al. (2006) Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neuro 66:1248-50.
  2. Bird TD. Myotonic Dystrophy Type 1. 1999 Sep 17 [Updated 2013 May 16]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/
  3. Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. 2006 Sep 21 [Updated 2013 Jul 3]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncb
  4. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 2003;60:657–64.
  5. Liquori et al. (2001). Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Sci 293:864-7.
  6. Logigian et al. (2005) Quantitative analysis of the “warm-up” phenomenon in myotoc dysrphy type 1. Muscel Nerve 32:35-42.
  7. Sternberg D, Tabti N, Hainque B, et al. Hypokalemic Periodic Paralysis. 2002 Apr 30 [Updated 2009 Apr 28]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from
  8. Suominen et al. (2011). Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet 19: 776-82.
  9. Udd et al. (2010) Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. Neuromuscl Disord 21: 443-50.
  10. Yotova et al. (2005) Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet 117:177-87.
DMD Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

DMD
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Recurrence risk
  • Assist with management/treatment decisions
  • Exon Array CGH

Ordering

787
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81161x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aartsma-Rus et al. (2006) Ann N Y Acad Sci. 1082:74–6.
  2. Barbujani et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990: 84: 522-6.
  3. Bennett (2004) Pharmacogenomics. 5(4):433-8.
  4. Bushby et al., (1991) Lancet (337):1022–4.
  5. Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
  6. Darras et al. Dystrophinopathies. 2000 Sep 5 [Updated 2011 Nov 23]. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available at http://www.genetests.org.
  7. del Gaudio et al., Hum Mutat 2008 29:1100-1107. PMID 18752307
  8. Dooley et al. (2010) Clin Pediatr (Phila) 49:177–9.
  9. Flanigan et al. (2003) Am J Hum Gen 72: 931-945.Hershberger et al. (Updated [3/2009]). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online).
  10. Tangsrud & Halvorsen (1989) Acta Paediatr Scand. 78:100–3.
  11. Tuffery-Giraud et al. (2009) Am J Hum Gen 30:934-945.
DMD Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

DMD
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Recurrence risk
  • Assist with management/treatment decisions
  • Next-Gen Sequencing

Ordering

786
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aartsma-Rus et al. (2006) Ann N Y Acad Sci. 1082:74–6.
  2. Barbujani et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990: 84: 522-6.
  3. Bennett (2004) Pharmacogenomics. 5(4):433-8.
  4. Bushby et al., (1991) Lancet (337):1022–4.
  5. Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
  6. Callis et al. (2010). Expert Rev Mol Diagn 10:329-351.
  7. del Gaudio et al., Hum Mutat 2008 29:1100-1107. PMID 18752307
  8. Dooley et al. (2010) Clin Pediatr (Phila) 49:177–9.
  9. Flanigan et al. (2003) Am J Hum Gen 72: 931-945.Hershberger et al. (Updated [3/2009]). Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests Medical Genetics Information Resource (database online).
  10. Tangsrud & Halvorsen (1989) Acta Paediatr Scand. 78:100–3.
  11. Tuffery-Giraud et al. (2009) Am J Hum Gen 30:934-945.
PABPN1 Repeat Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

PABPN1
  • Molecular confirmation of a clinical diagnosis
  • Capillary Sequencing

Ordering

743
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81401x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Anvar et al. (2011) Deregulation of the ubiquitin-proteasome system in the predominant molecular pathology in OPMD animal models and patients. Skelet Muscle 1:15.
  2. Askanas et al. (1995) New advances in the understanding of sporadic inclusion-body myositis and hereditary inclusion-body myopathies. Curr Opin Rheumatol. 7:486-96.
  3. Becher et al. (2001) Oculopharyngeal muscular dystrophy in Hispanic New Mexicans. JAMA 286:2437-40.
  4. Blumen et al. Epidemiology and inheritance of oculophyaryngeal muscular dystrophy in Israel. Neuromuscul Disord 6:S38-40.
  5. Brais et al. (1998) Short GCG expansion in the PABP3 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164-7.
  6. Trollet C, Gidaro T, Klein P, et al. Oculopharyngeal Muscular Dystrophy. 2001 Mar 8 [Updated 2014 Feb 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available
Congenital Myasthenia Syndromes Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AGRN, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A
  • Molecular confirmation of a clinical diagnosis.
  • To assist with decisions regarding treatment and management of individuals with congenital myasthenia.
  • Testing of at-risk relatives for specific known pathogenic variant(s) previously identified in an affected family
  • member.
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

945
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x9
No
No
* For price inquiries please email zebras@genedx.com

References

  1. Huze et al., (2009) American Journal of Genetics 85 (2): 155-167 (PMID: 19631309)
  2. Nicole et al., (2014) Brain: A Journal of Neurology 137: 2429-2443 (PMID: 24951643)
  3. Cossins et al., (2013) Brain: A Journal of Neurology 136: 944-956 (PMID: 23404334)
  4. Monies et al., (2014) Neuromuscular Disorders 24 (4) 353-359 (PMID: 24461433)
  5. Engel et al., (2012) Neuromuscular Disorders 22 (2): 99-111 (PMID: 22104196)
  6. Abicht et al., (2012) Human Mutation 33 (10): 1474-1484 (PMID: 22678886)
  7. Abicht et al., (1999) Neurology 53 (7): 1564-1569 (PMID: 10534268)
  8. Beeson et al., (2005) Neuromuscular Disorders 15 (7): 498-512 (PMID: 15951177)
  9. Beeson et al., (2006) Science 313 (5795): 1975-1978 (PMID: 16917026)
  10. Srour et al., (2010) Neuromuscular Disorders 20:453-457 (PMID: 20610155)
  11. Finlayson et al., (2013) Practical Neurology 13 (2): 80-91 (PMID: 23468559)
  12. Engel et al., (2015) Lancet Neurology 14 (5): 461 (PMID: 25895926)
  13. Muller et al., (2004) Journal of Medical Genetics 41 (98) e104 (PMID: 15286164)
  14. Richard et al., (2003) Journal of Medical Genetics 40:e81 (PMID: 12807980)
  15. Richard et al., (2008) Neurology 71 (24) 1967-1972 (PMID: 19064877)
Myofibrillar Myopathy Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

BAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

893
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x1, 81479x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Selcen and Engel. Myofibrillar Myopathy. 2002 Jan 28 [Updated 2012 Oct 29]. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1499/
  2. Greenberg, S.A., et al. (2012). Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann. Neurol. 71, 141-145. (PMID: 22275259)
  3. Pegoraro et al. Limb-Girdle Muscular Dystrophy Overview. 2000 June 8 [Updated 2012 Aug 30]. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1408/
Congenital Myopathies & Muscular Dystrophies Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACTA1, BICD2, CFL2, CHKB, COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, KBTBD13, LAMA2, LMNA, MEGF10, MTM1, NEB, RYR1, SEPN1, SYNE1, TNNT1, TPM2, TPM3
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

892
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Agrawal, et al. (2007). Am. J. Hum. Genet. 80, 162-167.
  2. Ockeloen, C.W., et al. (2012). Neuromuscular Disord. 22, 632-639.
  3. Mitsuhashi, S., Nishino, I. (2013). Curr. Opin. Neurol. 26, 536-543.
  4. Butterfield, R.J., et al. (2013). Hum. Mutat. 34, 1558-1567.
  5. Wicklund, M.P. (2013). Continuum (Minneap Minn) 19, 1535-1570.
  6. Clement, et al. (2012). Neuromuscular Disord. 22, 522-527. 7
  7. Yis, et al. (2011). Neuromuscular Disord. 21, 20-30.
  8. Anonymous Limb-Girdle Muscular Dystrophy Overview - GeneReviews® - NCBI Bookshelf, http://www.ncbi.nlm.nih.gov/books/NBK1408/.
  9. Saito, Fukuyama Congenital Muscular Dystrophy-GeneReviews® - NCBI Bookshelf, http://www.ncbi.nlm.nih.gov/books/NBK1206/.
  10. Godfrey, et al. (2011). Curr. Opin. Genet. Dev. 21, 278-285.
Syndromic Congenital Muscular Dystrophy Panel(SCMD)

Forms and Documents

Test Requisition Test Info Sheet

Test Details

B3GALNT2, B3GNT1, DAG1, DPM1, DPM2, DPM3, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, LMNA, POMGNT1, POMT1, POMT2, TMEM5, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with management/treatment decisions
  • Recurrence risk
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

891
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x4
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Stevens, E., et al. (2013) Am. J. Hum. Genet. 92: 354-365, 2013. (PubMed: 23453667).
  2. Dinçer, P., et al. (2003). Neuromuscular Disord. 13, 771-778.
  3. Yang, A.C., et al. (2013). Mol. Genet. Metab. 110, 345-351.
  4. Barone, R., et al. (2012). Ann. Neurol. 72, 550-558.
  5. Wicklund, M.P. (2013). Continuum (Minneap Minn) 19, 1535-1570.
  6. Clement, E.M., et al. (2012). Neuromuscular Disord. 22, 522-527.
  7. Saito, K. (2012 May 10). Fukuyama Congenital Muscular Dystrophy. in: Pagon RA, Adam MP, Ardinger HH, Et Al., Editors. GeneReviews®
  8. Pegoraro, E., Hoffman, E.P. (2012 Aug 30). Limb-Girdle Muscular Dystrophy Overview - GeneReviews®
  9. Chang, W., et al. (2009). Prenat. Diagn. 29, 560-569.
  10. Godfrey, C., et al. (2011). Curr. Opin. Genet. Dev. 21, 278-285.
Comprehensive Hereditary Spastic Paraplegia Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AP4B1, AP4E1, AP4M1, AP4S1, ATL1, B4GALNT1, BSCL2, C12ORF65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GJC2, KIAA0196, KIF1A, KIF1C, KIF5A, L1CAM, NIPA1, NT5C2, PLP1, PNPLA6, REEP1 (C2ORF23), RTN2, SLC16A2, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, VPS37A, ZFYVE26
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

941
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1, 81406x2, 81407x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
  2. Finsterer et al. (2012) J Neurol Sci 318 (1-2): 1-18.
  3. Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2014 Feb 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nl
  4. Fink JK (2014) Semin Neurol 34: 293-305.
  5. Fink JK (2013) Acta Neuropathol 126(3): 307-328.
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel
Uncomplicated Hereditary Spastic Paraplegia Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ATL1, CYP7B1, KIAA0196, KIF1A, KIF5A, NIPA1, REEP1 (C2ORF23), RTN2, SPAST, SPG11, SPG7
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

942
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1, 81406x2, 81407x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
  2. Finsterer et al. (2012) J Neurol Sci 318 (1-2): 1-18.
  3. Fink JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15 [Updated 2014 Feb 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nl
  4. Fink JK (2014) Semin Neurol 34: 293-305.
  5. Fink JK (2013) Acta Neuropathol 126(3): 307-328.
Ataxia Xpanded Panel

Forms and Documents

Test Requisition Test Info Sheet Ataxia Xpanded Panel Gene List

Test Details

  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with ataxia
  • Next-Gen Sequencing

Ordering

J762
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81403x1, 81404x2, 81405x2, 81406x4, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird T. Hereditary Ataxia Overview. 1998 Oct 28 [Updated 2016 Nov 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/boo
  2. Finsterer et al. (2009) Can J Neurol Sci 36 (4):409-28 (PMID: 19650351)
  3. Jayadev et al. (2013) Genet. Med. 15 (9):673-83 (PMID: 23538602)
  4. Sandford et al. (2014) Genes (Basel) 5 (3):586-603 (PMID: 25055202)
  5. Durr et al. (2010) Lancet Neurol 9 (9):885-94 (PMID: 20723845)
  6. Embiruçu et al. (2009) Arq Neuropsiquiatr 67 (4):1143-56 (PMID: 20069237)
  7. Kalia et al. (2016) Genet. Med.: (PMID: 27854360)
  8. Nemeth et al. (2013) Brain 136 (Pt 10):3106-18 (PMID: 24030952)
  9. Sastry et al. Exome Sequencing Provides a Broad Evaluation and High Diagnostic Rate for Ataxia-Related Disorders [abstract and platform presentation] To be presented at the 2017 ACMG Annual Clinical Genetics Meeting, March 21-25, 2016 Phoenix, AZ
  10. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Neurometabolic Disorders Testing

Reflex Del/Dup Testing After MMA and Related Disorders Panel
Reflex Del/Dup Testing after Hyperammonemia Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a urea cycle disorder, transporter defect or unexplained hyperammonemia
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Exon Array CGH

Ordering

684
3-4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81405x1, 81479x1
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Haberle, J. (2011) Eur J Pediatr 170:21-34.
  2. Lanpher et al., (Updated [Sept. 1, 2011]). Urea Cycle Disorders Overview. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org
  3. Auron, A.and Brophy, P. (2011) Pediatr Nephrol [Epub ahead of print].
  4. Bennett S.(2004) Pharmacogenomics 5:433-8.
  5. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
  6. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S. 7. Desviat et al., (2009) Mol Genet Metab 96:171-176.
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel
Hyperammonemia, Urea Cycle and Transporter Defects Sequencing Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a urea cycle disorder, transporter defect or unexplained hyperammonemia
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

665
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x3
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Haberle, J. (2011) Eur J Pediatr 170:21-34.
  2. Lanpher et al., (Updated [Sept. 1, 2011]). Urea Cycle Disorders Overview. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.or
  3. Auron, A.and Brophy, P. (2011) Pediatr Nephrol [Epub ahead of print]
  4. Bennett S.(2004) Pharmacogenomics 5:433-8.
  5. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632.
  6. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S.
  7. Desviat et al., (2009) Mol Genet Metab 96:171-176.
Fatty Acid Oxidation Sequencing Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, SLC22A5, SLC25A20
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial fatty acid oxidation disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing

Ordering

664
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x1, 81406x3
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Houten, S. and Wanders, R. (2010) J Inherit Metab Dis 33:469-477.
  2. Lindner, M., et al., (2010) J Inherit Metab Dis 33:521-526.
  3. Wanders et al., (2010) J Inherit Metab Dis 33:479-494.
  4. Spiekerkoetter, U. and Mayatepek, E., (2010) J Inherit Metab Dis 33:467-468.
  5. Bennett S.(2004) Pharmacogenomics 5:433-8
ACADM Remaining Exons Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACADM
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2683
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1, 81479x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Andresen, B.S. et al, (2001) Am J Hum Genet 68:1408-1418
  2. Maier, E.M. et al, (2005) Hum Mutat 25:443-52
  3. Chace, D.H. et al, (2002) Annu Rev Genomics, Hum Genet 3:17-45
HEXA Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HEXA
  • Confirmation of biochemical diagnosis especially in those with borderline enzyme activity
  • Full sequence analysis for non-Jewish partners of individuals who are known to be a mutation carrier
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

519
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
  2. Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
  3. Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
  4. Montalvo et al., (2005) Hum Mutat 26:282.
  5. Park et al., (2010) Pediatr Res 67:217-20.
  6. Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
  7. Hechtman et al., (1992) Hum Genet 90:402-406.
  8. Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
  9. Akerman et al., (1992) Hum Mutat 1:303-309.
  10. Cao et al., (1997) J Biol Chem 272:14975- 14982.
  11. Braekeleer et al., (1992) Hum Genet 89:83-87.
ACADVL Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACADVL
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

270
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Gregersen, N. et al, (2001) Hum Mutat 18:169-189
  2. Mathur, A. et al, (1999) Circulation 99:1337-1343
  3. Andresen, B.S. et al, (1999) Am J Hum Genet 64:479-494
  4. Liebig, M. et al, (2006) Pediatrics 118:1065-1069
DHCR7 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DHCR7
  • Confirmation of a suspected clinical diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2502
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Witsch-Baumgartner et al., (2000) Am J Hum Genet 66:402-412
  2. Correa-Cerro et al., (2005) Mol Gen Metab 84:112-26
  3. Yu, H. and Patel, S.B., (2005) Clin Genet 68:383-91
GCH1 Gene Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GCH1
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Capillary Sequencing
  • Exon Array CGH

Ordering

527
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
  • 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
  • 781 Symptoms involving nervous and musculoskeletal systems Excludes: depression NOS (311) disorders specifically relating to: back (724.0-724.9) hearing (388.0-389.9) joint (718.0-719.9) limb (729.0-729.9) neck (723.0-723.9) vision (368.0-369.9) pain in limb (729.5)
* For price inquiries please email zebras@genedx.com

References

  1. Muller Y et Al., (1998) Neurogenetics 1:165-177.
  2. Ichinose H et Al., (1994) Nat Genet 8:236-242.
  3. Bandmann O et Al., (1996) Hum Molec Genet 5:403-406.
  4. Furukawa Y et Al., (1998) Ann Neurol 44: 10-16.
  5. Furukawa Y et Al., (1998) Neurology 50:1015-20.
  6. Muller U et Al., (2002) J Neural Transm 109:321-328
  7. Furukawa Y, (2004) Adv Neurol 94:127-138.
  8. Hagenah et Al., (2005) Neurology 64:908-911.
  9. Thony B and Blau N, (2006) Hum Mutat 27:870- 878.
  10. Zirn B et Al., (2008) J Neurol Neurosurg Psych 79:183-186.
  11. Clot F et Al., (2009) Brain 132: 1753-1763.
  12. Furukawa Y, (2009) Gene Reviews GTPCH1-Deficient DRD.
CPT2 Gene Sequencing

Forms and Documents

Info Sheet Test Requisition

Test Details

CPT2
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

334
4-5 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81404x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Thuillier L. et al, (2003) Hum Mutat 21:493-501.
  2. Bonnefont, J. et al, (2004) Mol Aspects Med 25 :495-520.
  3. Wieser, T. (2006) Carnitine Palmitoyltransferase II Deficiency.
  4. Isackson, P. et al, (2006) Mol Genet Metab 89:323-31.
  5. Vladutiu, G. et al, (2000) Mol Genet Metab 70:134-41.
  6. Orngreen, M. et al, (2005) Ann Neurol 57:60-6.
  7. Martin, M. et al, (2000) Hum Mutat 15:579-80.
  8. Taggart, et al, (1999) Hum Mutat 13 :210-20.
  9. Wieser, et al, (2007) Neurology 60 :1351-1353.
  10. Musumeci, O. et al, (2007) Neuromuscul Disord Jul 23 [Epub].
GCDH Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GCDH
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

399
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Superti-Furga, A. and Hoffman, G (1997) Eur J Ped 156:821-828.
  2. Christensen E. et al., (2004) J Inherit Metab Dis 27:861-868.
  3. Hoffmann, G.F. et al., (1999) J Inher Metab Dis 22 :381-391.
  4. Zschocke, J. et al., (2000) J Med Genet 37:177- 181.
  5. Busquets, C. et al., (2000) Hum Mut 15(2):207.
  6. Goodman, SI et al., (1998) Hum Mut 12:141-4.
GALC Gene Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GALC
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

507
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
  • 330.0 Leukodystrophy
* For price inquiries please email zebras@genedx.com

References

  1. Wenger, D. (Updated [Aug. 5, 2008]) Krabbe Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle 1997-2010. Available at http://www.genetests.org.
  2. Lee et al., (2010) J Neurosci 30:5489-5497.
  3. Xu et al., (2006) J Hum Genet 51:548-554.
  4. Fu, et al., (1999) J Inher Metab Dis 22:155-162.
  5. Lissens et al., (2007) Hum Mutat 28:742.
  6. De Gasperi et al., (1996) Am J Hum Genet 59:1233-1242.
Reflex Del/Dup Testing After Fatty Acid Oxidation Disorders Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, SLC22A5, SLC25A20
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial fatty acid oxidation disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Exon Array CGH

Ordering

683
3-4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x3
Yes
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Houten, S. and Wanders, R. (2010) J Inherit Metab Dis 33:469-477.
  2. Lindner, M., et al., (2010) J Inherit Metab Dis 33:521-526.
  3. Wanders et al., (2010) J Inherit Metab Dis 33:479-494.
  4. Spiekerkoetter, U. and Mayatepek, E., (2010) J Inherit Metab Dis 33:467-468.
  5. Bennett S.(2004) Pharmacogenomics 5:433-8
GLA Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GLA
  • Confirmation of a clinical diagnosis
  • Mutation detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2321
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
Yes
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. MacDermot KD et al., J Med Genet 38:769-775 (2001)
  2. Barranger, JA & O’Rourke, E 10(1):9-15 (2002)
  3. Bennett RL et al., J of Genetic Counseling, 11(2):121-146 (2002)
  4. Schafer et al., Hum Mutat 25(4):412 (2005)
  5. Gupta et al., Medicine 84(5):261-268 (2005)
HADHA/HADHB Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HADHA, HADHB
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

532
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x2
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Tyni, T and Pihko, H. (1999) Acta Paediatr 88:237-245
  2. Hintz, S. R., et al. (2002) Mol Genet Metab 75:120-127
  3. den Boer MEJ, et al. (2002) Pediatrics 109:99-104
  4. Ibdah, J.A., et al. (1999) N Engl J Med 340:1723-1731
  5. Das, A.M. et al., (2006) Clin Chem 52:530-534
Reflex Del/Dup Testing After Metabolic Myopathy

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACADM, ACADVL, AGL, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, LDHA, LPIN1, PFKM, PGAM2, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TK2
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Exon Array CGH

Ordering

J698
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x3
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Berardo et al. (2010) Curr Neurol Neurosci Rep 10 (2):118-26 (PMID: 20425236)
  2. Wanders et al. (2010) Journal Of Inherited Metabolic Disease 33 (5):479-94 (PMID: 20490924)
Metabolic Myopathy

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACADM, ACADVL, AGL, ALDOA, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, LDHA, LPIN1, PFKM, PGAM2, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TK2
  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/management decisions
  • Next-Gen Sequencing

Ordering

J544
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1, 81405x3, 81406X1, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Berardo et al. (2010) Curr Neurol Neurosci Rep 10 (2):118-26 (PMID: 20425236)
  2. Wanders et al. (2010) Journal Of Inherited Metabolic Disease 33 (5):479-94 (PMID: 20490924)
HEXB Gene Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

HEXB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

515
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Fernandes J. (2006). Inborn Metabolic Diseases. Heidelberg, Germany: Springer Medizin Verlag.
  2. Zampieri et al., (2009) Neurogenetics 10:49-58.
  3. Kleiman et al., (1994) Hum Genet 94:279-282.
  4. Brown et al., (1992) Biochimica et Biophysica Acta 1180:91-98.
  5. Zampieri et al., (2012) PLOS ONE 7 :e41516.
MCOLN1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MCOLN1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2432
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81290x1, 81479x1
No
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. Bargal (2000) Nat Genet 26, 118
  2. Sun (2000) Hum Mol Genet 9, 2471
  3. Bassi (2000) Am J Hum Genet 67, 1110
  4. Bach (2005) Hum Mutat 26(6):591
  5. Dobrovolny (2007) Am J Ophthalmol 143:663-671
  6. Bargal (2001) Hum Mutat 17:397-402
  7. Slaugenhaupt (2002) Curr Molec Med 2:445-450
MMACHC Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MMACHC
  • Confirmation of a biochemical/clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

274
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1
No
Yes
  • 270.4 Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
  • 270.9 Unspecified disorder of amino-acid metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Rosenblatt, DS and Fenton, WA (2001) Inherited disorders of folate and cobalamin transport and metabolism . In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle (Eds)The Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY
  2. Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100
  3. Rosenblatt, DS et al. (1985) Science 28:1319-1321
  4. Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081
NPC1/NPC2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NPC1, NPC2
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

581
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81404x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Millat et al., (2005) Mol Genet Metab 86:220-232
  2. Park et al., (2003) Hum Mut 22:313
  3. Verot et al., (2007) Clin Genet 71:320-30
  4. Sevin et al., (2007) Brain 130:120-133
  5. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254
OTC Gene Sequencing (Males)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OTC
  • Confirmation of biochemical diagnosis
  • Identification of males with partial enzyme deficiency
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

313
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Ogino et al., (2007) Kobe J Med Sci 53:229-240
  2. Luksan et al., (2010) Hum Mutat 31:E1294-303
  3. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S
  4. Bowlig et al., (1999) Am J Med Genet 85:452
  5. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632
  6. Tuchman, M., et al, (2002) Hum Mutat 19 :93-107
OTC Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OTC
  • Confirmation of biochemical diagnosis
  • Identification of females heterozygous for a mutation
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

313E
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632
  2. Tuchman, M., et al, (2002) Hum Mutat 19 :93-107
  3. Bowlig et al., (1999) Am J Med Genet 85:452
  4. Luksan et al., (2010) Hum Mutat 31:E1294-303
  5. Ogino et al., (2007) Kobe J Med Sci 53:229-240
  6. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S
Sanfilippo/MPSIII Sequencing Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GNS, HGSNAT, NAGLU, SGSH
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing
  • Exon Array CGH

Ordering

610
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
No
Yes
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  2. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  3. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  4. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  5. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  6. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  7. Mok A. et al., (2003) Genomics 81:1-5.
  8. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  9. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  10. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  11. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
SMPD1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SMPD1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation(s)
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2631
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006). Am J Hum Genet 78:865-70;
  2. Sikora J, PavluPereira H, Elleder M, Roelofs H, Wevers RA (2003). Annals of Human Genetics 67:63-70
  3. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002. Am J Hum Genet 71:1413-9
  4. Fernandez-Burriel M, Pena L, Ramos JC, Cabrera JC, Marti M, Rodriguez-Quinones F, Chabas A (2003). Clin Genet 63(3):235-6
  5. McGovern MM, Schuchman EH (Updated 12-06-2006) Acid sphingomyelinase deficiency, In: GeneReviews at GeneTests: Medical Genetics Information Resource (databse online)
TH Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TH
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Capillary Sequencing

Ordering

359
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 348.3 Encephalopathy, not elsewhere classified
  • 780.6 Fever and other physiologic disturbances of temperature regulation
  • 251.2 Hypoglycemia, unspecified Hypoglycemia: NOS reactive spontaneous
  • 374.3 Ptosis of eyelid
  • 781 Symptoms involving nervous and musculoskeletal systems Excludes: depression NOS (311) disorders specifically relating to: back (724.0-724.9) hearing (388.0-389.9) joint (718.0-719.9) limb (729.0-729.9) neck (723.0-723.9) vision (368.0-369.9) pain in limb (729.5)
* For price inquiries please email zebras@genedx.com

References

  1. HGMD Professional 2010.3
  2. Willemsen et al., (2010) Brain 133:1810-1822
  3. Pons R et al., (2010) Mov Disord 25(8): 1086-90
  4. Zafeiriou et al., (2009) Mol Genet Metab 97:18-20
  5. Clot et al., (2009) Brain 132: 1753- 1763
  6. Swoboda (2008) TH Deficiency http://www.genetests.org
  7. Verbeek et al., (2007) Ann Neurol 62:422-426
  8. Ribases et al., (2007) Mol Genet Metab 92:274-277
  9. Schiller et al., (2004) Neurology 63:1524-1526
  10. Furukawa et al., (2001) Neurology 56:260-263
  11. Janssen et al., (2000) Ann Hum Genet 64:375-382
  12. Wevers et al., (1999) J Inher Metab Dis 22:364- 373
  13. Van den Heuvel et al., (1998) Hum Genet 102:644-6

Single-Gene & Other Neurological Disorders Testing

ANKRD11 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ANKRD11
  • Confirmation of a clinical diagnosis
  • Carrier testing for individuals with a known familial ANKRD11 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

673
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. K.L. Skjei et al., “KBG Syndrome: Reports of Twins, Neurological Characteristics, and Delineation of Diagnostic Criteria”. Am J Med Genet, Part A Vol. 143A: 292-300 (2007).
  2. S. Sacharow et al., “Familial 16q24.3 Microdeletion Involving ANKRD11 Causes a KBG-Like Syndrome”. Am J of Med Genet Part A Vol. 158A: 547-552 (2012).
  3. M.H. Willemsen et al., “Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome”. Eur J of Human Genet Vol 18: 429-435. (2010)
  4. M. Isrie et al., “Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms”. Eur J of Hum Genet Vol 20: 131-133 (2012).
  5. E.L. Youngs et al., “ANKRD11 gene deletion in a 17-year-old male”. Clinical Dysmorphology Vol 20: 170- 171. (2011)
  6. F. Brancati et al., “KBG syndrome in a cohort of Italian patients”. Am J Med Genet Part A Vol. 131A: 144- 149 (2004).
  7. A. Sirmaci et al., “Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia”. Am J Hum Genet Vol 89: 289-294 (2011).
  8. A. Zhang et al., “Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators”. J Biol. Chem Vol. 279: 33799-33805 (2004).
  9. A. Zhang et al., “Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1”. Biochemical and Biophysical Research Communications Vol.358: 1034–1040 (2007).
PRRT2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PRRT2
  • Confirmation of a clinical diagnosis
  • To differentiate PRRT2-related dyskinesia or seizures from other neurological disorders
  • Carrier testing for individuals with a known familial PRRT2 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

651
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Schubert et al., (2012) Hum Mutat 33:1439-1443.
  2. van Vliet et al., (2012) Neurol 79:777-784.
  3. Meneret et al., (2012) Neurol 79:170-174.
  4. Lee HY et al., (2012) Cell Reports 1:1-11.
  5. Dale et al., (2012) Dev Med and Child Neurol 54:618-624.
  6. Lipton et al., (2009) Neurol 73: 479-482.
  7. Lee et al., (2012) PloS One 7 :e38543.
  8. Heron et al., (2012) Am J Hum Genet 90 :152-160.
  9. Specchio et al., (2012) Eur J Pediatr Neurol http://dx.doi.org/10.1016/j.ejpn.2012.07.006
  10. Liu et al., (2012) J Med Genet 49:79-82.
  11. Cao et al., (2012) Parkisonism Rel Dis 18:704-706.
SCN9A Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

SCN9A
  • Confirmation of a clinical diagnosis
  • To differentiate SCN9A-related pain disorders from other genetic or environmental causes of pain
  • Carrier testing for individuals with a known familial SCN9A mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

650
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Fertleman et al., (2006) Neuron 52;767- 774.
  2. Faber et al., (2012) Ann Neurol 71 :26-39.
  3. Goldberg et al., (2007) Clin Genet 71:311-319.
  4. Dabby R., (2012) Curr Neurol Neurosci Rep 12 :76-83.
  5. Fischer, T.Z. and Waxman, S.G., (2010) Ann NY Acad Sci 1184:196-207.
  6. Dib-Hajj et al., (2008) Adv in Genet 63:85-110.
  7. Drenth et al., (2005) J Invest Dermatol 124:1233-1238.
TPP1 (CLN2) Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

TPP1 (CLN2)
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

607
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 369 Blindness and low vision Excludes: correctable impaired vision due to refractive errors (367.0-367.9) Note: Visual impairment refers to a functional limitation of the eye (e.g., limited visual acuity or visual field). It should be distinguished from visual disability, indicating a limitation of the abilities of the individual (e.g., limited reading skills, vocational skills), and from visual handicap, indicating a limitation of personal and socioeconomic independence (e.g., limited mobility, limited employability). The levels of impairment defined in the table after 369.9 are based on the recommendations of the WHO Study Group on Prevention of Blindness (Geneva, November 6-10, 1972; WHO Technical Report Series 518), and of the International Council of Ophthalmology (1976). Note that definitions of blindness vary in different settings. For international reporting, WHO defines blindness as profound impairment. This definition can be applied to blindness of one eye (369.1, 369.6) and to blindness of the individual (369.0). For determination of benefits in the U.S.A., the definition of legal blindness as severe impairment is often used. This definition applies to blindness of the individual only.
  • 345 Epilepsy and recurrent seizures The following fifth-digit subclassification is for use with categories 345.0, .1, .4-.9: 0 without mention of intractable epilepsy 1 with intractable epilepsy pharmacoresistant (pharmacologically resistant) poorly controlled treatment resistant refractory (medically) Excludes: hippocampal sclerosis (348.81) mesial temporal sclerosis (348.81) progressive myoclonic epilepsy (333.2) temporal sclerosis (348.81)
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. Mole, S. and Williams, R. (Updated [March 2, 2010])Neuronal Ceroid-Lipofuscinoses. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.gene
  2. Hofmann et al., (2002) Curr Mol Med 2:423-437.
  3. Sleat et al., (1999) Am J Hum Genet 64:1511-1523.
  4. Zhong et al., (2000) Genet Med 2:312-318.
Prader-Willi Syndrome Methylation Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Confirmation of clinical diagnosis
  • Targeted testing for a known familial deletion, UPD or imprinting error
  • Prenatal diagnosis by targeted array CGH for deletions or UPD only (methylation analysis not available for prenatal).
  • MLPA

Ordering

595
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81331x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 759.8 Other specified anomalies
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Jin, D.K. et al. (2011) Korean J Pediatr, 54(2):55-63.
  2. Whittington, J. et al. (2010) Am J Med Genet, 154C:438-447.
  3. Dykens, E. & Shah, B. (2003) CNS Drugs, 17(3):167-178.
  4. Milner, K. et al. (2005) J Child Psychol Psyc, 46(10):1089-1096.
  5. Chai, J-H. et al. (2003) Am J Hum Genet, 73:898-925.
  6. Veltman, M. et al. (2005) Psych Genet, 15:243-254.
  7. Bittel, D.C. et al. (2006) Pediatrics, 118(4):e1276-1283.
  8. Buiting, K. et al. (2003) Am J Hum Genet, 72:571-577.
  9. Holm, V. et al. (1993) Pediatrics, 91:398-402.
  10. Gunay-Aygun, M. et al. (2001) Pediatrics, 108(5):e92.
  11. Cassidy, S. and Schwartz, S. (Updated September 3, 2009). Prader-Willi Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1993-. Available at http://www.genetests.
KMT2D Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

KMT2D
  • Confirmation of clinical diagnosis
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation in the MLL2 gene
  • Capillary Sequencing

Ordering

583
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 783.43 Short stature, Growth failure, Growth retardation, Lack of growth, Physical retardation
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Wessels et al., (2002) Clinical Dysmorphol 11(2):95–102.
  2. Paulussen et al., (2010) Hum Mutat 32:E2018-E2025.
  3. Ng et al., (2010) Nat Genet 42(9):790-793.
  4. Li et al., (2011) Hum Genet 130(6):715-724.
  5. Lederer et al., (2012) Am J Hum Genet 90:119-124.
  6. Hannibal et al., (2011) Am J Med Genet A 155(7): 1511-1516.
NPC1/NPC2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NPC1, NPC2
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation
  • Capillary Sequencing

Ordering

581
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81404x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Millat et al., (2005) Mol Genet Metab 86:220-232
  2. Park et al., (2003) Hum Mut 22:313
  3. Verot et al., (2007) Clin Genet 71:320-30
  4. Sevin et al., (2007) Brain 130:120-133
  5. Fernandez-Valero et al., (2005) Clin Genet 68 :245-254
Angelman Syndrome Methylation Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Confirmation of clinical diagnosis
  • Targeted testing for a known familial deletion, UPD or imprinting error
  • Prenatal diagnosis by targeted array CGH for deletions or UPD only (methylation analysis not available for prenatal)
  • MLPA

Ordering

566
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81331x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Piard et al., (2011) Am J Med Genet 155:3170-3173.
  2. Beleza-Meireles et al., (2011) Eur J Med Genet 54:348-350.
  3. Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80.
  4. Hu et al., (2009) HUGO J 3:41-49.
  5. Whibley et al., (2010) Am J Hum Genet 87:173-188.
  6. Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783.
  7. Russo, S., et al, (2000) Hum Mutan 15(4):387-393.
  8. Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95.
  9. Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135.
  10. Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360.
  11. Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003-1010, 2008.
  12. Christianson A et al. Am J. Hum Genet. 36:759-766, 1999.
  13. Williams, C.A. and Dagli A.I. (Updated June 16, 2011). Angelman Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2009. Available at http://www.genetests.org
  14. Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845.
  15. Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172.
  16. Dagli AI.,et al, (2015) GeneReviews
IKBKG (NEMO) Gene Sequencing & Common Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

IKBKG (NEMO)
  • Confirmation of a clinical diagnosis
  • Carrier detection in female relatives
  • Differentiation between forms of the hypohidrotic ectodermal dysplasia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Long Range PCR

Ordering

553
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81479x1
No
Yes
  • 757.33 Congenital pigmentary anomalies of skin, Congenital poikiloderma, Urticaria pigmentosa, Xeroderma pigmentosum
  • 520 Disorders of tooth development and eruption
  • 361 Retinal detachments and defects
  • 757.4 Specified anomalies of hair; Congenital: alopecia atrichosis, beaded hair hypertrichosis, monilethrix, Persistent lanugo
* For price inquiries please email zebras@genedx.com

References

  1. Aradhya S et. al (2001) Hum Molec Genet 10:2171-2179
  2. Aradhya S et al (2001) Am J Hum Genet 10:2257-2267
  3. Doffinger R et al (2001) Nat Genet 27:277-285
  4. Fusco F et al (2008). Hum Mut 29:595-604
  5. Smahi A et al (2000) Nature 405:466-472
  6. Zonana J et al (2000) Am J Hum Genet 67:1555-1562
  7. Kashtan C (1999) Medicine (Baltimore) 78:338-360
  8. Scheuerle A & Nelson DL. Incontinentia pigmenti (Bloch-Sulzberger syndrome), In: GeneReviews at GeneTests (http://www.genetests.org), accessed 07-2010
  9. Wright J et al. Hypohydrotic ectodermal dysplasia, In: GeneReviews at GeneTests, accessed 07-2010
L1CAM Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

L1CAM
  • Patients with hydrocephalus and at least one L1CAM–associated finding
  • Carrier testing in female relatives
  • Risk assessment
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

552
9-10 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81407x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Vos, J. (2010) J Med Genet. 47(3):169-75
  2. Jackson, SR. (2009) Pediatr Surg Int. 25(9):823-5
  3. Jouet, M. (1994) Nature Genet. 7: 402-407, 1994
  4. Finckh, U. (2000) Am. J. Med. Genet. 92: 40-46
ACTA1 Gene Sequencing & NEB Mutation Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACTA1, NEB
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

551
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1, 81479x1
No
Yes
  • 359 Muscular dystrophies and other myopathies Excludes: idiopathic polymyositis (710.4)
* For price inquiries please email zebras@genedx.com

References

  1. North K & Ryan C, (2010) www.genereviews.org
  2. Laing NG, et al., (2009) Hum Mutat. 30(9):1267- 77
  3. Ilkowski B, et al., (2005) Neuromuscul Disord. 15:829:835
  4. Agrawal PB, et al., (2004) Ann Neurol. 2004; 56: 86– 96
  5. Anderson SL, et al., (2004) Hum Genet. 115: 185–90
  6. Ryan MM, et al., (2001) Ann Neurol. 50:312:320
  7. North KN, et al., (1997) J Med Genet. 34:705-713
  8. Wallgren-Peterson C, et Al. (1990) Neuromusc Disord 9:564:572.
  9. Wallgren-Pettersson C et Al., (2004) Neuromuscular Disord. 14: 461-70.
  10. Ilkowski B, et Al., (2005) Neuromuscul Disord. 15:829:835.
  11. McElhinny AS, et Al., (2005) J Cell Biol 170: 947-957.
  12. Laing NG, et Al., (2009) Hum Mutat. 30(9):1267-77.
  13. Lehtokari VL et Al., (2009) Neuromuscul Disord 19(3):179-81.
RSK2 (RPS6KA3) Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

RSK2
  • Confirmation of the clinical diagnosis
  • Carrier testing in female relatives
  • Capillary Sequencing
  • Exon Array CGH

Ordering

550
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002
MECP2 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MECP2
  • Confirmation of clinical diagnosis
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

549
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81302x1, 81304x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 299 Pervasive developmental disorders
  • 299 Pervasive developmental disorders
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Zeev et al. J Child Neurol 17:20-24, 2002
  2. del Gaudio et al. Gene Med 8:784-792, 2006
  3. Van Esch H. et al. Am J Hum Genet 77,:442-453, 2005
  4. Neul et al. Neurology 70:1313-1321, 2008
  5. Bebbington et al. Neurology 70:868-875, 2008
  6. Debona et al. Eur J Hum Genet 8:325-330, 2000
  7. Hitchins et al. Am J Med Genet A 125:167-172, 2004
  8. Couvert et al. Hum Mol Genet 10:941-946, 2001
  9. Kleefstra et al. Eur J Hum Genet 12:24-28, 2004
  10. Abdul-Rahman et al. Genet Med 8:50-54, 2006
  11. Carney et al. Pediatr Neurol 28:205-211, 2003
  12. Villard. J Med Genet 44:417-423, 2007, Bunyan et al. Genet Test 12:373-376, 2008
AGS Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

RNASEH2A, RNASEH2B, RNASEH2C, TREX1
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Carrier testing
  • Capillary Sequencing

Ordering

547
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
No
Yes
  • 333.6 Genetic torsion dystonia Dystonia: deformans progressiva, musculorum deformans (Schwalbe-), Ziehen-Oppenheim disease
  • 779 Other and ill-defined conditions originating in the perinatal period
  • 333 Other extrapyramidal disease and abnormal movement disorders Includes: other forms of extrapyramidal, basal ganglia, or striatopallidal disease Excludes: abnormal movements of head NOS (781.0) sleep related movement disorders (327.51-327.59)
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Lebon et al., (1988) J Neurol Sci 84:201-208
  2. Bonnemann et al., (1992). Neuropediatrics. 23:157-161
  3. Tolmie et al., (1995) J Med Genet. 32: 881-884
  4. Goutieres et al., (1998) Ann Neurol, 1998. 44:900-907.
  5. Kuijpers et al., (2002) Eur J Paediatr Neurol 6 Suppl A: A59-64; discussion A65-6, A77-86.
  6. Crow et al., (2008) Dev Med Child Neurol. 50:410-416.
  7. Aicardi, J. and F. Goutieres, (2000) Neuropediatrics 31:113.
  8. Giroud et al., (1986) Childs Nerv Syst 2:47-48.
  9. Rice, G., et al., (2007) Am J Hum Genet 80:811-815
UBE3A Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

UBE3A
  • Confirmation of clinical diagnosis
  • Targeted testing for a known familial mutation
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • ExonArray CGH

Ordering

546
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80
  2. Fichou et al. European Journal of Human Genetics (2009) 17, 1378–1380
  3. Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95
  4. Russo, S., et al, (2000) Hum Mutan 15(4):387-393
  5. Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135
  6. Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172
  7. Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845
  8. Dagli AI, Mueller J, Williams CA. Angelman Syndrome. 1998 Sep 15 [Updated 2015 May 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  9. Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360
  10. Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003- 1010, 2008
  11. Christianson A et al. Am J. Hum Genet. 36:759-766, 1999
  12. Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783
HADHA/HADHB Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HADHA, HADHB
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

532
6-8 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x2
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Tyni, T and Pihko, H. (1999) Acta Paediatr 88:237-245
  2. Hintz, S. R., et al. (2002) Mol Genet Metab 75:120-127
  3. den Boer MEJ, et al. (2002) Pediatrics 109:99-104
  4. Ibdah, J.A., et al. (1999) N Engl J Med 340:1723-1731
  5. Das, A.M. et al., (2006) Clin Chem 52:530-534
GCH1 Gene Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GCH1
  • Confirmation of a clinical diagnosis
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Capillary Sequencing
  • Exon Array CGH

Ordering

527
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
  • 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
  • 781 Symptoms involving nervous and musculoskeletal systems Excludes: depression NOS (311) disorders specifically relating to: back (724.0-724.9) hearing (388.0-389.9) joint (718.0-719.9) limb (729.0-729.9) neck (723.0-723.9) vision (368.0-369.9) pain in limb (729.5)
* For price inquiries please email zebras@genedx.com

References

  1. Muller Y et Al., (1998) Neurogenetics 1:165-177.
  2. Ichinose H et Al., (1994) Nat Genet 8:236-242.
  3. Bandmann O et Al., (1996) Hum Molec Genet 5:403-406.
  4. Furukawa Y et Al., (1998) Ann Neurol 44: 10-16.
  5. Furukawa Y et Al., (1998) Neurology 50:1015-20.
  6. Muller U et Al., (2002) J Neural Transm 109:321-328
  7. Furukawa Y, (2004) Adv Neurol 94:127-138.
  8. Hagenah et Al., (2005) Neurology 64:908-911.
  9. Thony B and Blau N, (2006) Hum Mutat 27:870- 878.
  10. Zirn B et Al., (2008) J Neurol Neurosurg Psych 79:183-186.
  11. Clot F et Al., (2009) Brain 132: 1753-1763.
  12. Furukawa Y, (2009) Gene Reviews GTPCH1-Deficient DRD.
Cerebral Cavernous Malformations (CCM) Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CCM2, KRIT1, PDCD10
  • Confirmation of a clinical diagnosis
  • Identification of family members at-risk for cerebral cavernous malformations (CCMs)
  • Recurrence risk assessment
  • Prenatal diagnosis in families with a known mutation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

526
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 747.81 Anomalies of cerebrovascular system, Arteriovenous malformation of brain, Cerebral arteriovenous aneurysm, congenital Congenital anomalies of cerebral vessels
  • 228 Hemangioma and lymphangioma,
  • 747.6 Other anomalies of peripheral vascular system, Absence of artery or vein, NEC Anomaly of artery or vein, NEC Atresia of artery or vein, NEC Arteriovenous aneurysm (peripheral), Arteriovenous malformation of the peripheral vascular system Congenital: aneurysm (peripheral) phlebectasia stricture, artery varix Multiple renal arteries Excludes: anomalies of: cerebral vessels (747.81) pulmonary artery (747.3) congenital retinal aneurysm (743.58) hemangioma (228.00-228.09) lymphangioma (228.1)
  • 325 Phlebitis and thrombophlebitis of intracranial venous sinuses, Embolism of cavernous, lateral, or other intracranial or unspecified intracranial venous sinu,s Endophlebitis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Phlebitis, septic or suppurative of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Thrombophlebitis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Thrombosis of cavernous, lateral, or other intracranial or unspecified intracranial venous sinus Excludes: that specified as: complicating pregnancy, childbirth, or the puerperium (671.5) of nonpyogenic origin (437.6)
* For price inquiries please email zebras@genedx.com

References

  1. Cavé-Riant et al. (2002) Eur J Hum Genet 10:733-740.
  2. Chen et al. (2002) J Neurol Sci 196:91-96.
  3. Davenport et al. (2001) Neurology 56:540-543.
  4. Denier et al. (2006) Ann Neurol 60:550-556.
  5. Eerola et al. (2000) Hum Mol Genet 9(9):1351-1355.
  6. Faurobert and Albiges-Rizo. (2010) FEBS J 277:1084-1096.
  7. Labauge et al. (2006) Arch Ophthalmol 124:885-886
  8. Liquori et al. (2007) Am J Hum Genet 80:69-75.
  9. Riant et al. (2010) FEBS J 277:1070-1075.
  10. Stahl et al. (2008) Hum Mutat 29(5):709- 717.
HEXA Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HEXA
  • Confirmation of biochemical diagnosis especially in those with borderline enzyme activity
  • Full sequence analysis for non-Jewish partners of individuals who are known to be a mutation carrier
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

519
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Kaback, M. (Updated [May 19, 2006]) Hexosaminidase A Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2007. Available at http://www.genetests.org.
  2. Maegawa et al., (2006) Pediatrics 118:e1550-e1562.
  3. Giraud et al., (2010) Biochem Biophys Res Commun 392:599-602.
  4. Montalvo et al., (2005) Hum Mutat 26:282.
  5. Park et al., (2010) Pediatr Res 67:217-20.
  6. Myerowitz, R. And Hogikyan, N. (1986) Science 232:1646-1648.
  7. Hechtman et al., (1992) Hum Genet 90:402-406.
  8. Triggs-Raine et al., (1990) N Engl J Med 323:6-12.
  9. Akerman et al., (1992) Hum Mutat 1:303-309.
  10. Cao et al., (1997) J Biol Chem 272:14975- 14982.
  11. Braekeleer et al., (1992) Hum Genet 89:83-87.
GALC Gene Sequencing & Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GALC
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

507
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
  • 330.0 Leukodystrophy
* For price inquiries please email zebras@genedx.com

References

  1. Wenger, D. (Updated [Aug. 5, 2008]) Krabbe Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle 1997-2010. Available at http://www.genetests.org.
  2. Lee et al., (2010) J Neurosci 30:5489-5497.
  3. Xu et al., (2006) J Hum Genet 51:548-554.
  4. Fu, et al., (1999) J Inher Metab Dis 22:155-162.
  5. Lissens et al., (2007) Hum Mutat 28:742.
  6. De Gasperi et al., (1996) Am J Hum Genet 59:1233-1242.
HESX1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

HESX1
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
  • Capillary Sequencing

Ordering

474
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 377.43 Optic nerve hypoplasia
* For price inquiries please email zebras@genedx.com

References

  1. Thomas et al., (2001) Hum Molec Genet 10: 39-45
  2. Tajima et al., (2003) J Clin Endocr Metab 88: 45-50
  3. Sobrier et al., (2006) J Clin Endocr Metab 91:4528-4536
  4. McNay et al., (2007) J Clin Endocr Metab 92:691-697
  5. Dattani et al., (1998) Nat Genet 19:125-133
GPC3 Gene Sequencing (Males)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GPC3
  • Confirmation of a clinical diagnosis
  • Carrier testing in individuals with a known familial GPC3 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

415
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 750.15 Macroglossia Congenital hypertrophy of tongue
  • 775.6 Neonatal hypoglycemia
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
  2. Lindsay, et al., (1997) J. Med. Genet. 34:480-483
  3. Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
  4. Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
  5. Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
  6. Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
  7. Pilia et al., (1996) Nat Genet 12:241-247
  8. Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
  9. Neri, et al., (1998) Am. J. Hum. Genet. 79:279-283
  10. Lapunzina (2005) Am J Med Genet C 137C:53-71
GPC3 Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GPC3
  • Confirmation of a clinical diagnosis
  • Carrier testing in individuals with a known familial GPC3 mutation
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

415E
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 750.15 Macroglossia Congenital hypertrophy of tongue
  • 775.6 Neonatal hypoglycemia
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Lin, et al., (1999) Am. J. Hum. Genet. 83:378-381
  2. Lindsay, et al., (1997) J. Med. Genet. 34:480-483
  3. Hughes-Benzie, et al., (1996) Am. J. Hum. Genet. 66:227-234
  4. Sakazume, et al., (2007) Am. J. Med. Genet. 143A: 1703-1707
  5. Li, et al., (2001) Am. J. Hum. Genet. 102:161-168
  6. Veugelers, et al., (2000) Hum. Mol. Genet. 9:1321-1328
  7. Pilia et al., (1996) Nat Genet 12:241-247
  8. Rodriguez-Criado et al., (2005) Am J Med Genet A 138A:272-277
  9. Lapunzina (2005) Am J Med Genet C 137C:53-71
  10. Neri, et al., (1998) Am. J. Hum. Genet. 79:279-283
NSD1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NSD1
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

406
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x1
No
Yes
  • 766.1 Other "heavy-for-dates" infants, Other fetus or infant "heavy-" or "large-for-dates" regardless of period of gestation
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Tatton-Brown and Rahman (2004) Clin Dysmorphol 13: 199-204
  2. Tatton-Brown et al., (2005) Am J Hum Genet 77: 193-204
  3. Lapunzina (2005) Am J Med Genet C 137C:53-71
  4. Baujat and Cormier-Daire (2007) Orph J Rare Dis 2:36
  5. Kurotaki et al., (2003) Hum Mutat 22:378-87
  6. Visser et al., (2005) J Med Genet 42e
  7. Waggoner et al., (2005) Genet Med 7: 524-33
  8. Saugier-Veber et al., (2007) Hum Mutat 28(11):1098-1107
  9. Douglas et al., (2005) J Med Genet 42:e56
  10. Rio et al., (2003) J Med Genet 40:436-440
  11. Cecconi et al., (2005) Am J Med Genet 134A:247-253
  12. Turkmen et al., (2003) Am J Med Genet 137C:24-31
GCDH Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GCDH
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

399
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Superti-Furga, A. and Hoffman, G (1997) Eur J Ped 156:821-828.
  2. Christensen E. et al., (2004) J Inherit Metab Dis 27:861-868.
  3. Hoffmann, G.F. et al., (1999) J Inher Metab Dis 22 :381-391.
  4. Zschocke, J. et al., (2000) J Med Genet 37:177- 181.
  5. Busquets, C. et al., (2000) Hum Mut 15(2):207.
  6. Goodman, SI et al., (1998) Hum Mut 12:141-4.
SLC9A6 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SLC9A6
  • Confirmation of clinical diagnosis
  • Targeted testing for a known familial mutation
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

375
5-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Boyes L., et al. Eur J Med Genet. (2006) 49(6):472-80
  2. Fichou et al. European Journal of Human Genetics (2009) 17, 1378–1380
  3. Russo, S., et al, (2000) Hum Mutan 15(4):387-393
  4. Clayton-Smith, J., et al (2003) J Med Genet 40(2):87-95
  5. Schroer R., et al. Am J Med Genet. (2009) 152A:2775-2783
  6. Malzac, P., et al, (1998) Am J Hum Genet 62(6):1353-1360
  7. Gillfillan G et al., Am. J. Hum. Genet. 82(4): 1003- 1010, 2008
  8. Christianson A et al. Am J. Hum Genet. 36:759-766, 1999
  9. Williams, C.A. Dagli, A.I.and Driscoll, D.J. (Updated September 5, 2008). Angelman Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, Univeristy of Washington, Seattle. 1997-2009
  10. Hitchins, M.P., et al, (2004) Am J Med Genet 125A(2):167-172
  11. Lossie, A.C., et al, (2001) J Med Genet 38(12):834-845
  12. Fang, P., et al, (1991) Hum Molec Genet 8(1):129-135
TTR Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TTR
  • Confirmation of a clinical diagnosis
  • Differentiation between cardiac amyloidosis and other cardiomypopathies
  • Carrier testing in at-risk family members
  • Prenatal diagnosis in families with a known pathogenic variant
  • Capillary Sequencing

Ordering

363
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81404x1
No
Yes
  • 277.3 Amyloidosis
  • 425.7 Nutritional and metabolic cardiomyopathy; Code first underlying disease, as: amyloidosis (277.30-277.39), beriberi (265.0), cardiac glycogenosis (271.0), mucopolysaccharidosis (277.5), thyrotoxicosis (242.0-242.9)
  • 277.39 Other amyloidosis, Hereditary cardiac amyloidosi,s Inherited systemic amyloidosis, Neuropathic (Portuguese) (Swiss) amyloidosis, Secondary amyloidosis
* For price inquiries please email zebras@genedx.com

References

  1. Seikijima Y et al. Transthyretin amyloidosis, In: GeneReviews. Last Update: March 15, 2006. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tfap
  2. Hou et al. (2007) Transthyretin and familial amyloidotic polyneuropathy FEBS 274, 1637-50
  3. Jacobson DR et al. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in Black Americans. New Eng. J. Med. 336: 466-473, 1997
  4. Coelho T et al. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J. Med. Genet. 31: 293-299, 1994
  5. Holmgren G et al. Geographical distribution of TTR met-30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. J. Med. Genet. 31: 351-354, 1994
  6. Ikeda S et al. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Europ. Neurol. 32: 308-313, 1992
  7. Holmgren G et al. Homozygosity for the transthyretin-met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin. Genet. 41: 39-41, 1992
  8. Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
  9. Ando, Y. et al. (2005) Transthyretin-related Familial Amyloidotic Polyneuropathy Arch Neurol 62, 1057-62
  10. Saraiva, M.J.M. (2001) Transthyretin Mutations in Hyperthyroxinemia and Amyloid Disease Hum Mutat 17, 493-503
  11. Sekijima et al. (2005) The biological and chemical basis for tissue-selective amyloid disease Cell 121, 73-85
TH Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

TH
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Capillary Sequencing

Ordering

359
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 348.3 Encephalopathy, not elsewhere classified
  • 780.6 Fever and other physiologic disturbances of temperature regulation
  • 251.2 Hypoglycemia, unspecified Hypoglycemia: NOS reactive spontaneous
  • 374.3 Ptosis of eyelid
  • 781 Symptoms involving nervous and musculoskeletal systems Excludes: depression NOS (311) disorders specifically relating to: back (724.0-724.9) hearing (388.0-389.9) joint (718.0-719.9) limb (729.0-729.9) neck (723.0-723.9) vision (368.0-369.9) pain in limb (729.5)
* For price inquiries please email zebras@genedx.com

References

  1. HGMD Professional 2010.3
  2. Willemsen et al., (2010) Brain 133:1810-1822
  3. Pons R et al., (2010) Mov Disord 25(8): 1086-90
  4. Zafeiriou et al., (2009) Mol Genet Metab 97:18-20
  5. Clot et al., (2009) Brain 132: 1753- 1763
  6. Swoboda (2008) TH Deficiency http://www.genetests.org
  7. Verbeek et al., (2007) Ann Neurol 62:422-426
  8. Ribases et al., (2007) Mol Genet Metab 92:274-277
  9. Schiller et al., (2004) Neurology 63:1524-1526
  10. Furukawa et al., (2001) Neurology 56:260-263
  11. Janssen et al., (2000) Ann Hum Genet 64:375-382
  12. Wevers et al., (1999) J Inher Metab Dis 22:364- 373
  13. Van den Heuvel et al., (1998) Hum Genet 102:644-6
IGHMBP2 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

IGHMBP2
  • Confirmation of the clinical diagnosis
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

342
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 518.83 Chronic respiratory failure
  • 519.4 Disorders of diaphragm Diaphragmitis, Paralysis of diaphragm Relaxation of diaphragm
  • 335.1 Spinal muscular atrophy
* For price inquiries please email zebras@genedx.com

References

  1. Grohmann et al., (2001) Nat Genet 29:75-77
  2. Guenther et al., (2007) Hum Mutat 28:808-815
  3. Guenther et al., (2004) Hum Genet 115:319-326
  4. Guenther et al., (2009) J Mol Med 87:31-41
  5. Kaindl et al., (2008) J Child Neurol 23:199-204
  6. Diers et al., (2005) Acta Neuropathol 110:289-297
  7. Grohmann et al., (2003) Ann Neurol 54:719-724
  8. Basel-Vanagaite et al., (2008) Genet Testing 12:53-56
CPT2 Gene Sequencing

Forms and Documents

Info Sheet Test Requisition

Test Details

CPT2
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

334
4-5 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81404x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Thuillier L. et al, (2003) Hum Mutat 21:493-501.
  2. Bonnefont, J. et al, (2004) Mol Aspects Med 25 :495-520.
  3. Wieser, T. (2006) Carnitine Palmitoyltransferase II Deficiency.
  4. Isackson, P. et al, (2006) Mol Genet Metab 89:323-31.
  5. Vladutiu, G. et al, (2000) Mol Genet Metab 70:134-41.
  6. Orngreen, M. et al, (2005) Ann Neurol 57:60-6.
  7. Martin, M. et al, (2000) Hum Mutat 15:579-80.
  8. Taggart, et al, (1999) Hum Mutat 13 :210-20.
  9. Wieser, et al, (2007) Neurology 60 :1351-1353.
  10. Musumeci, O. et al, (2007) Neuromuscul Disord Jul 23 [Epub].
OTC Gene Sequencing (Males)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OTC
  • Confirmation of biochemical diagnosis
  • Identification of males with partial enzyme deficiency
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

313
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Ogino et al., (2007) Kobe J Med Sci 53:229-240
  2. Luksan et al., (2010) Hum Mutat 31:E1294-303
  3. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S
  4. Bowlig et al., (1999) Am J Med Genet 85:452
  5. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632
  6. Tuchman, M., et al, (2002) Hum Mutat 19 :93-107
OTC Gene Sequencing & Del/Dup (Females)

Forms and Documents

Test Info Sheet Test Requisition

Test Details

OTC
  • Confirmation of biochemical diagnosis
  • Identification of females heterozygous for a mutation
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

313E
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
  • 270.6 Disorders of urea cycle metabolism, Argininosuccinic aciduria, Citrullinemia, Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine, and ammonia, Hyperammonemia, Hyperornithinemia
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Yamaguchi, S., et al, (2006) Hum Mutat 27(7):626-632
  2. Tuchman, M., et al, (2002) Hum Mutat 19 :93-107
  3. Bowlig et al., (1999) Am J Med Genet 85:452
  4. Luksan et al., (2010) Hum Mutat 31:E1294-303
  5. Ogino et al., (2007) Kobe J Med Sci 53:229-240
  6. Tuchman, M., et al., (1998) Mol Genet Metab 21:40S- 58S
BTD Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

BTD
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

294
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1
No
Yes
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Hymes, et al, (2001) Hum Mutat 18:375-381
  2. Wolf, et al, (2002) Molec Genet Metab 77:108-111
  3. Milankovics, et al, (2007) Molec Genet Metab 90:345-348
  4. Wolf, et al (2005) Hum Mutat 25:413
  5. Norrgard, et al (1999) Pediatr Res 46:20-27
  6. Pomponio, et al, (1997) Hum Genet 99:506-12
  7. Dobrowolski, et al, (2003) Molec Genet Metab 78:100-107
CREBBP Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CREBBP
  • Confirmation of a clinical diagnosis
  • Differentiation between familial and de novo cases
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2923
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1, 81407x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Kalkhoven E et Al., (2003) Hum Mol Genet 12:441-450.
  2. Roelfsema JH et Al., (2005) Am J Hum Genet 76:572-580.
  3. Bentivegna A et Al., (2006) BMC Med Genet 7:77.
  4. Schorry EK et Al., (2008) Am J Med Genet 146A: 2512-2519.
  5. Gervasini C et Al., (2010) Eur J Hum Genet 18: 768-775.
  6. Sharma N et Al, (2010) J Biosci 35(2): 187-202.
  7. Thienpont B et Al., (2010) J Med Genet 47: 155-161.
MMACHC Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MMACHC
  • Confirmation of a biochemical/clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

274
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1
No
Yes
  • 270.4 Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia
  • 270.9 Unspecified disorder of amino-acid metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Rosenblatt, DS and Fenton, WA (2001) Inherited disorders of folate and cobalamin transport and metabolism . In: C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle (Eds)The Metabolic and Molecular Basis of Inherited Diseases, McGraw-Hill, NY
  2. Lerner-Ellis, JP et al., (2006) Nature Genet 38:93-100
  3. Rosenblatt, DS et al. (1985) Science 28:1319-1321
  4. Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081
ACADVL Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACADVL
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

270
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
* For price inquiries please email zebras@genedx.com

References

  1. Gregersen, N. et al, (2001) Hum Mutat 18:169-189
  2. Mathur, A. et al, (1999) Circulation 99:1337-1343
  3. Andresen, B.S. et al, (1999) Am J Hum Genet 64:479-494
  4. Liebig, M. et al, (2006) Pediatrics 118:1065-1069
SMPD1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SMPD1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with known mutation(s)
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2631
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 330.2 Cerebral degeneration in generalized lipidoses; Code first underlying disease, as: Fabry's disease (272.7), Gaucher's disease (272.7), Niemann-Pick disease (272.7), sphingolipidosis (272.7)
  • 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive xanthoma Xanthoma tuberosum
* For price inquiries please email zebras@genedx.com

References

  1. Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006). Am J Hum Genet 78:865-70;
  2. Sikora J, PavluPereira H, Elleder M, Roelofs H, Wevers RA (2003). Annals of Human Genetics 67:63-70
  3. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH (2002. Am J Hum Genet 71:1413-9
  4. Fernandez-Burriel M, Pena L, Ramos JC, Cabrera JC, Marti M, Rodriguez-Quinones F, Chabas A (2003). Clin Genet 63(3):235-6
  5. McGovern MM, Schuchman EH (Updated 12-06-2006) Acid sphingomyelinase deficiency, In: GeneReviews at GeneTests: Medical Genetics Information Resource (databse online)
RAI1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

RAI1
  • Confirmation of clinical diagnosis
  • Recurrence risk estimation
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2511
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Nakamine, A. et al., Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Am J Med Genet. 146A(5):636-643, 2008
  2. Dr. Sarah Elsea, personal communication, 2005
  3. Girirajan, S. et al., RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 42: 820-28, 2005
  4. Bi, W. et al., Mutations of RAI1, a PHD-containing protein, in non-deletion patients with Smith-Magenis syndrome. Hum Genet. 115: 515-24, 2004
  5. Slager, R.et al., Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 33: 466-68 2003
  6. Girirajan, S. et al., Genotype-phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 8: 417-27, 2006
DHCR7 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

DHCR7
  • Confirmation of a suspected clinical diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2502
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 759.89 Other Congenital malformation syndromes affecting multiple systems
* For price inquiries please email zebras@genedx.com

References

  1. Witsch-Baumgartner et al., (2000) Am J Hum Genet 66:402-412
  2. Correa-Cerro et al., (2005) Mol Gen Metab 84:112-26
  3. Yu, H. and Patel, S.B., (2005) Clin Genet 68:383-91
MCOLN1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

MCOLN1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

2432
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81290x1, 81479x1
No
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. Bargal (2000) Nat Genet 26, 118
  2. Sun (2000) Hum Mol Genet 9, 2471
  3. Bassi (2000) Am J Hum Genet 67, 1110
  4. Bach (2005) Hum Mutat 26(6):591
  5. Dobrovolny (2007) Am J Ophthalmol 143:663-671
  6. Bargal (2001) Hum Mutat 17:397-402
  7. Slaugenhaupt (2002) Curr Molec Med 2:445-450
NTRK1 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NTRK1
  • Confirmation of the clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis in families with an affected child and known mutation(s)
  • Capillary Sequencing

Ordering

239
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 705 Disorders of sweat glands
  • 778.4 Other disturbances of temperature regulation of newborn, Dehydration fever in newborn, Environmentally induced pyrexia, Hyperthermia in newborn, Transitory fever of newborn
  • 742.8 Other specified anomalies of nervous system, Agenesis of nerve, Displacement of brachial plexus, Familial dysautonomia, Jaw-winking syndrome, Marcus-Gunn syndrome, Riley-Day syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Wieczorek S, et al. Neuromuscul Disord. 2008; 18:681-4
  2. Rotthier A, et al. Brain. 2009; 132:2699-711
  3. Indo Y, et al. Hum Mutat. 2001; 18:462-71
  4. Houlden H, et al. Neurol. 2001; 49:521-5
  5. Kilic S, et al. Neurogenetics. 2009; 10:161-5
GNE (M743T) Mutation Analysis

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GNE
  • Confirmation of a clinical diagnosis
  • Carrier detection
  • Identification of at-risk family members
  • Capillary Sequencing

Ordering

238
2-4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81400x1
No
Yes
  • 359.9 Myopathy, unspecified
* For price inquiries please email zebras@genedx.com

References

  1. Eisenberg, I et al., Mutation Spectrum of GNE in Hereditary Inclusion Body Myopathy Sparing Quadriceps Hum Mutat 21(1):99 (2003)
  2. Eisenberg I, et al., The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy Nature Genet 29:83-87 (2001)
Holoprosencephaly Panel & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

SHH, SIX3, TGIF, ZIC2
  • Confirmation of clinical diagnosis
  • Identification of the specific gene defect(s) to allow: (a) Identification of non-expressing mutation carriers in families with an affected member (b) Prenatal diagnosis for the specific mutation in the family
  • Capillary Sequencing
  • MLPA

Ordering

2371
9-10 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
Yes
Yes
  • 742.2 Reduction deformities of brain Absence of part of brain, Agenesis of part of brain, Agyria Aplasia of part of brain, Arhinencephaly, Holoprosencephaly, Hypoplasia of part of brain Microgyria
* For price inquiries please email zebras@genedx.com

References

  1. Wallis et al., (2000) Human Mutat 16:99-108
  2. Dubourg et al., (2004) Hum Mutat 24: 43-51
  3. Bendavid et al., (2005) Hum Genet 119: 1-8
  4. Bendavid et al., (2006) J Med Genet 43: 496-500
  5. Dubourg et al., (2007) Orphan J Rare Dis 2:8
  6. El-Jaik et al., (2007) Mol Genet Metab 90:97-111
  7. Bendavid et al., (2009) Hum Mutat 30: 1175-1182
  8. Lacbawan et al., (2009) J Med Genet 46:389-98
  9. Roessler et al., (2009) Hum Mutat 10:921- 993
  10. Solomon et al., (2009) J Med Genet 47:513-24
  11. Muenke, M. and Gropman, A. Holoprosencephaly Overview, www.genereviews.org. (2010)
  12. Muenke et al., (2010) Am J Med Genet 154C: 52-61
  13. Paulussen et al., (2010) Eur J Hum Genet 18: 999-1005.
  14. Solomon et al., (2010) Am J Med Genet 154C: 133-141
GLA Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GLA
  • Confirmation of a clinical diagnosis
  • Mutation detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2321
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
Yes
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. MacDermot KD et al., J Med Genet 38:769-775 (2001)
  2. Barranger, JA & O’Rourke, E 10(1):9-15 (2002)
  3. Bennett RL et al., J of Genetic Counseling, 11(2):121-146 (2002)
  4. Schafer et al., Hum Mutat 25(4):412 (2005)
  5. Gupta et al., Medicine 84(5):261-268 (2005)
GFAP Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

GFAP
  • Confirmation of a clinical diagnosis
  • Differentiation of Alexander disease from Canavan disease
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

218
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81405x1
No
Yes
  • 330 Cerebral degenerations usually manifest in childhood Use additional code to identify associated mental retardation
  • 742.4 Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
  • 330.8 Other specified cerebral degenerations in childhood, Alpers' disease or gray-matter degeneration, Infantile necrotizing encephalomyelopathy, Leigh's disease, Subacute necrotizing, encephalopathy or encephalomyelopathy
* For price inquiries please email zebras@genedx.com

References

  1. Schuelke, M et al., Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21(3):260-1. 1999
  2. Brenner, M et al., Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease Nature Genetics 27:117-120 (2001)
  3. Meins M et al., Infantile Alexander Disease: A GFAP Mutation in Monozygotic Twins and Novel Mutations in Two Other Patients Neuropediatrics 33:194-198 (2002)
  4. Rodriguez D et al., Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation Am J Hum Genet 69:1134-1140 (2001)
  5. Gorospe JR et al., Molecular findings in symptomatic and pre-symptomatic Alexander disease patients Neurology 58: 1494-1500 (2002)
PTCH1 Gene Sequencing & Del/Dup

Forms and Documents

Test Info Sheet Test Requisition

Test Details

PTCH1
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies with a known familial variant
  • Capillary Sequencing
  • Exon Array CGH

Ordering

205
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Klein, R. et al., Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 7: 611-19, 2005
  2. Wicking, C. et al., Most Germ-Line Mutations in the Nevoid Basal Cell Carcinoma Syndrome Lead to a Premature Termination of the PATCHED Protein, and No Genotype-Phenotype Correlations Are Evident. Am J Hum Genet. 60: 21-26, 1997
  3. Lindström, E. et al., PTCH Mutations: Distribution and Analyses. Hum Mutat. 27: 215-19, 2006
  4. Benhamed S and Bale S. Gorlin Syndrome: A substantial proportion of previously “missing” mutations are large PTCH deletions. ASHG Abstract presented 2008.
PTEN Gene Sequencing and Del/Dup

Forms and Documents

Test Requisition Test Info Sheet

Test Details

PTEN
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

195
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81321x1, 81323x1
Yes
Yes
  • v12.72 Colonic polyps
  • 214 Lipoma Includes: angiolipoma fibrolipoma hibernoma lipoma (fetal) (infiltrating) (intramuscular) myelolipoma myxolipoma
  • 174 Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • 742.4 Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002
AAAS Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AAAS
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Recurrence risk calculation
  • Prenatal diagnosis in families with an affected child and known mutation(s)
  • Capillary Sequencing

Ordering

219
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 255.4 Corticoadrenal insufficiency
  • 530 Diseases of esophagus Excludes: esophageal varices (456.0-456.2)
  • 337 Disorders of the autonomic nervous system Includes: disorders of peripheral autonomic, sympathetic, parasympathetic, or vegetative system Excludes: familial dysautonomia [Riley-Day syndrome] (742.8)
  • 356 Hereditary and idiopathic peripheral neuropathy
* For price inquiries please email zebras@genedx.com

References

  1. Houlden H et al. (2002) Brain 125: 2681-90
  2. Qin K et al., (2007) Mol Genet Metab 92(4):359-63
  3. Milenkovic T et al., (2010)Eur J Pediatr. 169(11):1323-8
  4. Sandrini F et al., (2001) J Clin Endocrinol. 86: 5433-7
  5. Brooks BP et al., (2005) Clin Genet. 68: 215-21
CDKL5 Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CDKL5
  • Confirmation of clinical diagnosis
  • Differentiation of CDKL5-related atypical Rett syndrome from classic Rett syndrome (in patients who tested negative for a MECP2 mutation)
  • Differentiation between de novo and familial cases
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

3051
6-7 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 315.3 Developmental speech or language disorder
  • 45.6 Infantile spasms
  • 318 Other specified mental retardation
  • 299 Pervasive developmental disorders
  • 299 Pervasive developmental disorders
  • 315.9 Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
* For price inquiries please email zebras@genedx.com

References

  1. Van Esch H et al., Am J Med Genet A. 2007;143(4):364-9
  2. Kalscheuer VM et al., Am J Hum Genet. 2003;72(6):1401-11
  3. Mari F et al., Hum Mol Genet. 2005;14(14):1935-46
  4. Evans JC et al., Eur J Hum Genet. 2005;13(10):1113-20
  5. Tao J et al., Am. J. Hum. Genet. 75: 1149-1154, 2004
  6. Weaving LS et al., Am J Hum Genet 2004; 75:1079-1093
  7. Rosas-Vargas H et al., J Med Genet 2008; 45: 172-178
  8. Archer HL et al., J Med Genet 2006; 43:729-734
Comprehensive NF Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

NF1, NF2, SMARCB1, SPRED1
  • Establish or confirm a clinical diagnosis
  • Identification of at-risk family members
  • Development of an appropriate evaluation and management Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • MLPA
  • Next-Gen Sequencing

Ordering

961
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x1, 81408x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Friedman JM. Neurofibromatosis 1. 1998 Oct 2 [Updated 2014 Sep 4]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1
  2. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK12
  3. Stevenson D, Viskochil D, Mao R, et al. Legius Syndrome. 2010 Oct 14 [Updated 2015 Jan 15]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.nc
  4. Trovo-Marqui, A, Tajara E. (2006) Clin. Genet. 70: 1-13 (PMID: 16813595)
  5. Curto M, McClatchey A. (2008) Brit. J. Cancer 98: 256-262 (PMID: 17971776)
  6. Brems et al., (2012) Hum. Mutat. 33: 1538-1546 (PMID: 22753041)
  7. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 609291: 09/24/13: World Wide Web URL: http://omim.org/.
  8. Spencer et al., (2011) Am J Med Genet Part A 155:1352–1359 (PMID: 21548021)
  9. Evans D. (2009) Genet Med 11: 599–610 (PMID: 19652604)
  10. Ahronowitz et al., (2007) Hum. Mutat. 28: 1-12 (PMID: 16983642)
  11. Wimmer et al., (2006) Genes Chromosomes Cancer 45:265–76 (PMID: 16283621)
  12. Valero et al. (2011) J Mol Diagn 13:113–22 (PMID: 21354044)
  13. Sabbagh et al., (2013) Hum. Mutat. 34:1510-1518 (PMID: 23913538)
  14. Baser et al., (2006) Hum Mutat. 27: 297-306 (PMID: 16521120)
  15. Stumpf et al. (1988) Arch Neurol 45:575-578 (PMID: 3128965)
  16. Messiaen et al., (2009) JAMA 302:2111–8 (PMID: 19920235)
  17. Pasmant et al., (2010) Hum Mutat 31:E1506–18 (PMID: 20513137)
  18. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 611413: 02/20/13: World Wide Web URL: http://omim.org/.
  19. Muram-Zborovski et al, (2010) J Chil Neurol 25(10): 1203-1209 (PMID: 20179001)
  20. Hadfield et al., (2008) J Med Genet 45:332-339 (PMID: 18285426)
  21. Plotkin et al. (2013) Am J Med Genet A 161A(3): 405-16 (PMID: 23401320)
  22. Van den Munckhof et al., (2012) Neurogenetics 13(1): 1-7 (PMID: 22038540)
  23. Bacci et al., (2010) Neurogenetics 11(1) 73-80 (PMID: 19582488)
  24. MacCollin et al., (2005) Neurology 64: 1838-1845 (PMID: 15955931)
  25. Ullrich N (2015) J of Child Neurology pii: 0883073815604220 (PMID: 26459515)
  26. MacCollin et al., (2003) Neurology 60: 1968-74 (PMID: 12821741)
  27. Slattery et al., (2015) Otolaryngol Clin North Am 48(3): 443-60 (PMID: 26043141)
  28. Smith et al., (2015) Hum Mut 37: 250-256 (PMID: 26615784)
  29. Colley et al., (1996) Clin Genet 49: 59-64 (PMID: 8740913)

Mitochondrial Disorders Testing

Combined Mito Genome Plus Mito Nuclear Gene Panel

Forms and Documents

Test Info Sheet Test Requisition Mito Comprehensive Guide Gene List

Test Details

AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19orf12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

615
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81460x1, 81465x1, 81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  2. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  3. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  5. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  6. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
SDHA Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

SDHA
  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

582
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Parfait (2000) Hum Genet 106: 236.
  2. Horvath (2006) J Neurol Neurosurg Psychiatry 77:74.
  3. Bourgeron (1995) Nat Genet 11:144.
  4. Birch-Machin (2000) Ann Neurol 48:330.
  5. Van Coster (2003) Am J Med Genet 120A:13.
  6. Levitas (2010) Eur J Hum Genet 18: 1160.
  7. Burnichon (2010) Hum Mol Genet 19:3011.
Methylglutaconic Aciduria Nuclear Gene Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AGK, ATP5E, ATPAF2 (ATP12), AUH, CLPB, DNAJC19, HMGCL, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

578
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x2, 81479x8
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gunay-Aygun, M. (2005) Mol Genet Metab 84, 1-3.
  2. Gibson, K. M., Wappner, R. S., Jooste, S., Erasmus, E., Mienie, L. J., Gerlo, E., Desprechins, B., and De Meirleir, L. (1998) J Inherit Metab Dis 21, 631-8.
  3. Ogilvie, I., Kennaway, N. G., and Shoubridge, E. A. (2005) J Clin Invest 115, 2784-92.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16]
  5. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  6. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  7. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  8. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  9. Gibson, K. M., Bennett, M. J., Mize, C. E., Jakobs, C., Rotig, A., Munnich, A., Lichter-Konecki, U., and Trefz, F. K. (1992) J Pediatr 121, 940-2.
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACO2, ALG13, ALG3, APTX, AUH, C10ORF2, C12ORF65, CISD2, CLPB, COX7B, DARS, DDHD2, DGUOK, DNA2, DNAJC19, DNM1L, DPM1, EARS2, FH, GYG2, ISCA2, MCEE, MFF, MFN2, MGME1, MOGS, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3 (C3ORF60), NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, PRPS1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SPG7, SRD5A3, STT3B, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TYMP, VARS2, WFS1
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

577
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1, 81405x3, 81406x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yu-Wai-Man, P., Griffiths, P. G., and Chinnery, P. F. (2011) Prog Retin Eye Res 30, 81-114.
  2. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  3. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  7. Fratter, C., Raman, P., Alston, C. L., Blakely, E. L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M. G., Poulton, J., Brierley, C., Staunton, T. G., Turnpenny, P. D., Schaefer, A. M., Chinnery, P. F., Horvath, R., Turnbull, D. M., Go
  8. Milone, M., and Massie, R. (2010) Neurologist 16, 84-91.
  9. Stewart, J. D., Hudson, G., Yu-Wai-Man, P., Blakeley, E. L., He, L., Horvath, R., Maddison, P., Wright, A., Griffiths, P. G., Turnbull, D. M., Taylor, R. W., and Chinnery, P. F. (2008) Neurology 71, 1829-31.
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACAD9, ADCK3 (CABC1; COQ8), AGK, AGL, AIFM1, ALDOB, ATP5E, ATPAF2 (ATP12), B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, CA5A, CARS2, COG4, COG8, COQ2, COQ4, COQ9, COX10, COX14 (C12ORF62), COX15, COX6B1, CYC1, DARS2, DBT, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBP1, FBXL4, FDX1L, FH, FOXRED1, G6PC, GFER, GFM1 (EFG1), GTPBP3, GYG2, GYS2, HADHA, HADHB, HIBCH, HLCS, HMGCS2, HSD17B10, HSPD1, IBA57, ISCU, LARS, LARS2, LDHA, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS, MFF, MLYCD, MPC1 (BRP44L), MPV17, MRPL12, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3 (C3ORF60), NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PFKM, PHKG2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SFXN4, SLC25A13, SLC25A19, SLC25A3 (PHC), SLC25A4, SLC2A2, SLC35A2, SLC37A4, SLC7A7, SUCLA2, SUCLG1, SURF1, TARS2, TAZ, TK2, TMEM70, TPK1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

576
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x3, 81406x5
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

AARS2, ACAD9, ACO2, ADCK3 (CABC1; COQ8), AFG3L2, AIFM1, APOPT1, APTX, ATP5A1, ATP5E, ATPAF2 (ATP12), AUH, BCS1L, BOLA3, C10ORF2, C12ORF65, CA5A, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX6B1, CPT1A, CPT2, CYC1, DARS, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1 (EFG1), GFM2, GTPBP3, GYG2, HIBCH, HLCS, HSPD1, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1 (BRP44L), MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RANBP2, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A1, SLC25A15, SLC25A19, SLC25A22, SLC35A2, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCC2, UQCC3, UQCRQ, VARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

575
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x4, 81406x3
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
Comprehensive Mitochondrial Nuclear Gene Panel

Forms and Documents

Test Info Sheet Test Requisition Gene List Mito Comprehensive Guide

Test Details

AARS, AARS2, ABCB11, ABCB4, ABCB7, ABCD4, ACAD9, ACADM, ACADVL, ACO2, ACSF3, ADCK3 (CABC1; COQ8), ADCK4, AFG3L2, AGK, AGL, AIFM1, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG13, ALG2, ALG3, ALG6, ALG9, AMACR, APOPT1, APTX, ARG1, ASL, ASS1, ATP5A1, ATP5E, ATP7B, ATP8B1, ATPAF2 (ATP12), AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BOLA3, C10ORF2, C12ORF65, C19orf12, CA5A, CARS2, CHKB, CISD2, CLPB, COA5 (C2ORF64), COA6, COASY, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ6, COQ9, COX10, COX14 (C12ORF62), COX15, COX20 (FAM36A), COX4I2, COX6A1, COX6B1, COX7B, CPS1, CPT1A, CPT2, CYC1, DARS, DARS2, DBT, DDHD1, DDHD2, DDOST, DGUOK, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM3, EARS2, ECHS1, ELAC2, ENO3, ETFA, ETFB, ETFDH, ETHE1, FAH, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, G6PC, GAA, GAMT, GARS, GATM, GBE1, GCDH, GFER, GFM1 (EFG1), GFM2, GLRX5, GMPPA, GSS, GTPBP3, GYG1, GYG2, GYS1, GYS2, HADHA, HADHB, HARS2, HCFC1, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, IARS2, IBA57, ISCA2, ISCU, IVD, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MARS, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGAT2, MGME1, MICU1, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MOGS, MPC1 (BRP44L), MPDU1, MPI, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, MTR, MTRR, MUT, NADK2, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3 (C3ORF60), NDUFAF4 (C6ORF66), NDUFAF5, NDUFAF6, NDUFAF7 (C2ORF56), NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, PNPT1, POLG, POLG2, PRKAG2, PRPS1, PTRH2, PUS1, PYGM, QARS, RANBP2, RARS, RARS2, REEP1 (C2ORF23), RFT1, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3 (PHC), SLC25A38, SLC25A4, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC6A8, SLC7A7, SPAST, SPG7, SPTLC1, SRD5A3, SSR4, STT3A, STT3B, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM165, TMEM70, TPK1, TRIT1, TRMU, TRNT1, TSFM, TTC19, TUFM, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, YARS2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

573
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  2. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  3. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  4. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  5. Bennett, S. (2004) Pharmacogenomics 5, 433-8.
  6. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
PUS1 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

PUS1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

557
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Fernandez-Vizarra et al., (2007) J Med Genet 44:173-180.
  2. Bergmann et al., (2010) Pediatr Blood Cancer 54:273-278.
  3. Bykhovskaya et al., (2004) Am J Hum Genet 74:1303-1308.
  4. Riley et al., (2010) Am J Hum Genet 87:52-59.
Mito Genome Sequencing & Deletion Testing

Forms and Documents

Test Info Sheet Test Requisition Mito Comprehensive Guide

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Next-Gen Sequencing

Ordering

554
4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube|Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81460x1, 81465x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189.
  2. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  4. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93.
  5. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121.
  6. Longo, N. (2003) Neurol Clin N Am 21:817- 831.
  7. Bennett S.(2004) Pharmacogenomics 5:433-8.
  8. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  9. Koenig MK. (2008) Pediatr Neurol, 38:305-313.
  10. Zeviani1 and Di Donato. (2004) Brain, 127: 2153–2172.
mtDNA Del/Dup Analysis

Forms and Documents

Test Requisition Test Info Sheet

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Exon Array CGH

Ordering

444
3-4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube

Billing

81465x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Chinault et al., Genet Med (2009)11:518-526
  2. Uusimaa et al., (2000) Pediatrics 105:598-603
  3. Wong, L. and Senadheera, D. (1997) Clin Chem 43:1857-1861
  4. Darin et al., (2001) Ann Neurol 49:377-383
  5. Remes et al., (2005) Neurology 64:976-981
  6. Jaksch et al., (2001) J Med Genet 38:665-673
  7. Sternberg et al., (2001) Brain 124:984-994
  8. Crispim et al., (2008) Arq Bras Endocrinol Metab 52:1228-1235
  9. Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy
  10. DiMauro, S. Gene Reviews (2005) MELAS
  11. Taylor et al., (2003) J Am Coll Cardiol 41:1786-96
  12. Thorburn, D. Gene Reviews (2006) Mitochondrial DNAAssociated Leigh Syndrome and NARP
  13. DiMauro, S. Gene Reviews (2005) MERRF
  14. Macmillan et al., (1998) Neurology 50:417-22
  15. Mackey et al., (1996) Am J Hum Genet 59:481-485
  16. Majamaa et al., (1998) Am J Hum Genet 63:447-454
  17. Goto et al., (1991) Biochim Biophys Acta 1097:238-40
  18. DiMaruo, S. Gene Reviews (2007) Mitochondrial DNA Deletion Syndromes
  19. Harding, A. and Hammans, S. (1992) J Inher Metab Dis 15:480-486
  20. Moraes et al., (1989) N Engl J Med 18:1293-9
  21. Longo, N. (2003) Neurol Clin N Am 21:817- 831
  22. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121
  23. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93
  24. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview
  25. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187
  26. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189
POLG Gene Sequencing

Forms and Documents

Test Info Sheet Test Requisition

Test Details

POLG
  • Confirmation of biochemical and clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis when familial mutations are known
  • Capillary Sequencing

Ordering

394
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. McFarland et al., (2008) Arch Dis Child 93:151-153
  2. Horvath et al., (2006) Brain 129:1674-1684
  3. Wong et al., (2008) Hum Mutat 29:E150-E172
  4. Blok et al., (2009, Jul 2) J Med Genet [Epub ahead of print]
  5. Agostino et al., (2003) Neurology 60:1354-1356
65 mtDNA Point Mutations plus Large Deletions Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

65 confirmed disease-causing mtDNA point variants (see list in Test Info Sheet) and large scale deletion analysis of the mitochondrial genome (including LHON [20 mutations], MELAS [16 mutations], LS/NARP [22 mutations], MIHL/MIDM [10 mutations)] MERRF [6 mutations], KSS, CPEO, Pearson syndrome, etc.)

  • Next-Gen Sequencing

Ordering

704
3-4 weeks
Tissue Biopsy (>50 mg Muscle or Liver-Flash Frozen)
2-5 mL Blood - Lavender Top Tube|Oral Rinse (30-40 mL)

Billing

81465x1, 81401x5
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Longo, N. (2003) Neurol Clin N Am 21:817-831.
  2. Majamaa et al., (1998) Am J Hum Genet 63:447-454.
  3. Goto et al., (1991) Biochim Biophys Acta 1097:238-40.
  4. Mackey et al., (1996) Am J Hum Genet 59:481-485.
  5. Taylor et al., (2003) J Am Coll Cardiol 41:1786-96.
  6. DiMauro, S. Gene Reviews (2005) MERRF.
  7. Thorburn, D. Gene Reviews (2006) Mitochondrial DNA-Associated Leigh Syndrome and NARP.
  8. DiMauro, S. Gene Reviews (2005) MELAS.
  9. Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy.
  10. Macmillan et al., (1998) Neurology 50:417-22.
  11. Crispim et al., (2008) Arq Bras Endocrinol Metab 52:1228-1235.
  12. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187.
  13. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  14. Bennett S.(2004) Pharmacogenomics 5:433-8
  15. MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2008.
  16. Achilli et al., (2012) PLoS One 7:e42242.
  17. Pulkes et al., (1999) Ann Neurol 46:916-9.
  18. DiMaruo, S. and Hirano, M. (Updated [May 3, 2011]). Mitochondrial DNA Deletion Syndromes In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2012. Available at http://w
  19. Jeppesen TD,et al. (2003) Ann Neurol 54(1):86-92.
  20. Moraes et al., (1989) N Engl J Med 18:1293-9.
  21. Chinault et al., Genet Med (2009)11:518-526
  22. Uusimaa et al., (2000) Pediatrics 105:598-603
  23. Remes et al., (2005) Neurology 64:976-981
  24. Darin et al., (2001) Ann Neurol 49:377-383
  25. Wong, L. and Senadheera, D. (1997) Clin Chem 43:1857-1861
  26. Jaksch et al., (2001) J Med Genet 38:665-673
MitoXpanded Panel

Forms and Documents

MitoXpanded Gene List Test Requisition Test Info Sheet

Test Details

Molecular confirmation of a clinical diagnosis
Testing of patients suspected of having a mitochondrial disorder
Prenatal diagnosis for known familial mutation(s) in nuclear genes in at-risk pregnancies.

  • Next-Gen Sequencing

Ordering

J809
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81440x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Ataide, A., Marques, C., Miguel, T., Borges, L., Vicente, A. M., and Oliveira, C. R. (2005) Dev Med Child Neurol 47, 185-9.
  2. Chinnery, P. F. (1993(updated 2010)) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2000 Jun 08 [updated 2010 Sep 16].
  3. Tarnopolsky, M. A., and Raha, S. (2005) Med Sci Sports Exerc 37, 2086-93.
  4. van Adel, B. A., and Tarnopolsky, M. A. (2009) J Clin Neuromuscul Dis 10, 97-121.
  5. Zhu, X., Peng, X., Guan, M. X., and Yan, Q. (2009) Acta Biochim Biophys Sin (Shanghai) 41, 179-87.
  6. Bai R, Balog A, Higgs J, Retterer K, Arjona D, Juusola J, Vitazka P, Suchy S, Enns GM, Haas R, Goldstein A, Tarnopolsky M, Parikh S, Copeland WC, Niyazov D, Falk MJ, Chung WK, Bale S, Richard G. WES and WMGS for Molecular Diagnosis of Mitochondrial Disord
  7. Pronicka et al. (2016) J Transl Med 14 (1):174 (PMID: 27290639)
  8. Taylor et al. (2014) Jama 312 (1):68-77 (PMID: 25058219)
  9. Retterer et al. (2015) Genet. Med.: (PMID: 26633542)

Brain Malformations Testing

Microcephaly Xpanded Panel

Forms and Documents

Test Requisition Test Info sheet Gene List

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk.
  • Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies
  • Next-Gen Sequencing

Ordering

J511
6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x3, 81405x3, 81406x1, 81407x2, 81408x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ashwal et al., (2009) Neurology 73(11): 887-897 (PMID: 19752457).
  2. Kaindl et al., (2010) Progress in Neurobiology 90:363-383 (PMID: 19931588).
  3. Verloes A, Drunat S, Gressens P, et al. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. 2009 Sep 1 [Updated 2013 Oct 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): Univers
  4. Woods CG (2004) Current Opinion in Neurobiology 14:112-117 (PMID: 15018946).
  5. Abuelo, D (2007) Semin Pediatr Neurol 14:118-127 (PMID: 17980308).
  6. Faheem et al., (2015) BMC Med Genomics 8 Suppl 1:S4 (PMID: 25951892).
  7. Shanmugham et al., Trio-based whole exome sequencing (WES): an effective diagnostic tool for patients with microcephaly [abstract]. In National Society of Genetic Counselors Annual Education Conference 2016 Sept 27-Oct 1, Seattle WA
Lissencephaly Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACTB, ACTG1, ARX, ATP6V0A2, B3GALNT2, B3GNT1, DCX, FKRP, FKTN, GMPPB, ISPD, LAMB1, LARGE, NDE1, PAFAH1B1, POMGNT1, POMGNT2, POMT1, POMT2, RELN, TMEM5, TUBA1A, VLDLR, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of neuronal migration and cortical organization disorders
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

946
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x2, 81406x2, 81407x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Fry et al. (2014) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 166C (2):198-210 (PMID: 24862549).
  2. Dyment et al. (2013) Current Neurology And Neuroscience Reports 13 (8):364 (PMID: 23793931)
  3. Devisme et al. (2012) Brain : A Journal Of Neurology 135 (Pt 2):469-82 (PMID: 22323514)
  4. Dobyns WB, Das S. LIS1-Associated Lissencephaly/Subcortical Band Heterotopia. 2009 Mar 3 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Avail
  5. Hehr U, Uyanik G, Aigner L, et al. DCXRelated Disorders. 2007 Oct 19 [Updated 2011 Mar 24]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://ww
  6. Verloes et al. (2015) European Journal Of Human Genetics : Ejhg 23 (3):292-301 (PMID: 25052316).
  7. Kato et al. (2004) Human Mutation 23 (2):147-59 (PMID: 14722918)
  8. Dobyns, et al. (2010) Epilepsia 51 Suppl 1 :5-9 (PMID: 20331703).
  9. Poirier et al. (2006) Neurogenetics 7 (1):39-46 (PMID: 16235064).
  10. Nawara et al. (2006) American Journal Of Medical Genetics. Part A 140 (7):727-32 (PMID: 16523516).
Joubert Syndrome and Related Disorders Panel
Pontocerebellar Hypoplasia Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

CASK, CHMP1A, CLP1, EXOSC3, OPHN1, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of cerebellar hypoplasia
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

700
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x7
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Namavar et al. Orphanet J Rare Diseases (2011) 6:50-63
  2. Maricich et al. J Child Neurol. 2011 26:288-294.
  3. Namavar et al. GeneReviews (accessed September 2012); http://www.ncbi.nlm.nih.gov/books/NBK9673/
  4. Cassandrini D et al. Neurology. 2010 Oct 19;75(16):1459-64.
  5. Najm J et al. Nat Genet. 2008 Sep;40(9):1065-7.
  6. Hackett A et al. Eur J Hum Genet. 2010 May;18(5):544-52.
  7. Burglen L et al. Orphanet J Rare Dis. 2012 Mar 27;7:18.
  8. Budde BS et al. Nat Genet. 2008 Sep;40(9):1113-8.
  9. Namavar Y et al. Brain. 2011 Jan;134(Pt 1):143-56.
  10. Cassandrini D et al. Neurology. 2010 Oct 19;75(16):1459-64. 1
Syndromic Macrocephaly/Overgrowth Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

CUL4B, EZH2, GLI3, GPC3, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, UPF3B
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with macrocephaly
  • Genetic counseling
  • Diagnostic or carrier testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutations in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

699
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81321x1, 81323x1, 81401x1, 81405x1, 81406x1
No
Yes
* For price inquiries please email zebras@genedx.com
Cortical Brain Malformations Panel

Forms and Documents

Test Info Sheet Test Requisition

Test Details

ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, CCND2, CUL4B, DCX, DYNC1H1, ERMARD, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, LAMB1, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SRD5A3, SRPX2, TBC1D20, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of neuronal migration and cortical organization disorders
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

698
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x2, 81405x2, 81406x4
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Barkovich et al. (2009) Brain : A Journal Of Neurology 132 (Pt 12):3199-230 (PMID: 19933510)
  2. Guerrini et al. (2010) Neurobiology Of Disease 38 (2):154-66 (PMID: 19245832).
  3. Liu et al. (2011) Current Neurology And Neuroscience Reports 11 (2):171-8 (PMID: 21222180)
  4. Aronica et al. (2012) Brain Pathology (Zurich, Switzerland) 22 (3):380-401 (PMID: 22497611).
  5. Cushion et al. (2013) Brain : A Journal Of Neurology 136 (Pt 2):536-48 (PMID: 23361065).
  6. Okumura et al. (2013) Neuropathology 33 (5):553-60 (PMID: 23240987)
  7. Oegema et al. (2012) Am. J. Med. Genet. A 158A (6):1472-6 (PMID: 22585566)
  8. Fry et al. (2014) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 166C (2):198-210 (PMID: 24862549)
  9. GeneReviews: http://www.ncbi.nlm.nih.gov/books/NBK1213/
  10. GeneReviews: http://www.ncbi.nlm.nih.gov/books/NBK1329/.
Comprehensive Brain Malformations Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ACTB, ACTG1, ADGRG1, AHI1, AKT3, ARFGEF2, ARL13B, ARX, ASPM, ATP6V0A2, B3GALNT2, B3GNT1, B9D1, C5orf42, CASK, CC2D2A, CCND2, CEP290, CEP41, CHMP1A, CLP1, CSPP1, CUL4B, DCX, DYNC1H1, ERMARD, EXOSC3, FAT4, FKRP, FKTN, FLNA, GMPPB, GPSM2, IFT172, INPP5E, ISPD, KIAA1279 (KIF1BP), KIF2A, KIF5C, KIF7, LAMB1, LAMC3, LARGE, MKS1, NDE1, NPHP1, NPHP3, OCLN, OFD1 (CXORF5), OPHN1, PAFAH1B1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RPGRIP1L, RTTN, SEPSECS, SRD5A3, SRPX2, TBC1D20, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, VLDLR, VPS53, VRK1, WDR62
  • Molecular confirmation of a clinical diagnosis
  • Distinguish between causes and forms of brain malformations
  • Genetic counseling
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

691
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x2, 81406x3, 81407x2, 81408x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Verloes et al. (2015) European Journal Of Human Genetics : Ejhg 23 (3):292-301 (PMID: 25052316).
  2. Piao et al. (2005) Annals Of Neurology 58 (5):680-7 (PMID: 16240336).
  3. Bahi-Buisson et al. (2010) Brain : A Journal Of Neurology 133 (11):3194-209 (PMID: 20929962).
  4. Rivière et al. (2012) Nature Genetics 44 (8):934-40 (PMID: 22729224)
  5. Mirzaa et al. (2014) Nature Genetics 46 (5):510-5 (PMID: 24705253).
  6. Tanyalçin et al. (2013) European Journal Of Paediatric Neurology : Ejpn : Official Journal Of The European Paediatric Neurology Society 17 (6):666-70 (PMID: 23755938).
  7. Bahi-Buisson et al. (2013) Handbook Of Clinical Neurology 111 :653-65 (PMID: 23622213).
  8. Kato et al. (2004) Human Mutation 23 (2):147-59 (PMID: 14722918).
  9. Dobyns, et al. (2010) Epilepsia 51 Suppl 1 :5-9 (PMID: 20331703).
  10. Poirier et al. (2006) Neurogenetics 7 (1):39-46 (PMID: 16235064).
  11. Nawara et al. (2006) American Journal Of Medical Genetics. Part A 140 (7):727-32 (PMID: 16523516).
  12. Verloes A, Drunat S, Gressens P, et al. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders. 2009 Sep 1 [Updated 2013 Oct 31].
  13. Gardeitchik et al. (2014) European Journal Of Human Genetics : Ejhg 22 (7):888-95 (PMID: 23963297).
  14. Fischer et al. (2012) Human Genetics 131 (11):1761-73 (PMID: 22773132).
  15. Stevens et al. (2013) American Journal Of Human Genetics 92 (3):354-65 (PMID: 23453667).
Microcephaly Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

ASPM, ATR, ATRX, CASK, CDK5RAP2, CDKL5, CENPJ, CEP152, DHCR7, FOXG1, IER3IP1, MCPH1, MECP2, MYCN, NIPBL, PCNT, RAB18, RAB3GAP1, RAB3GAP2, RBBP8, SLC25A19, SLC9A6, STIL, TCF4, TUBB3, UBE3A, WDR62, ZEB2
  • Molecular confirmation of a clinical diagnosis
  • Establish the type of microcephaly and cause in order to provide information regarding prognosis, management and recurrence risk.
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

689
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1, 81406x3, 81407x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

Hereditary Neuropathy Testing

PMP22 Gene Sequencing

Forms and Documents

Test Requisition Test Info Sheet

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Next-Gen Sequencing

Ordering

888
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81325x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
  2. Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetes
  3. Li, J (2012) Semin Neurol. 32(3): 204-214.
  4. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
  5. Siskind et al. (2013) J Genet Counsel 22:422-436.
Demyelinating CMT Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

DNM2, EGR2, FGD4, FIG4, GDAP1, GJB1, INF2, LITAF, MFN2, MPZ, MTMR2, NDRG1, NEFL, PMP22, PRPS1, PRX, SBF2, SH3TC2, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

886
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1, 81325x1, 81403x1, 81404x2, 81405x4, 81406x2
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Claeys et al. (2009) Brain 132:1741-1752.
  2. Bird (Updated March 2015). Charcot-Marie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  3. Bird (Updated August 2015). Charcot-Marie-Tooth Neuropathy Type 4. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  4. Azzedine et al. (2012) Molecular syndromology 3 (5):204-14 (PMID: 23293578)
  5. Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073)
  6. Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229)
  7. Saporta et al. (2011) Ann Neurol 69(1): 22-33. 5. Siskind et al. (2013) J Genet Counsel 22: 422-436.
  8. Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  9. Reilly et al. (2011) J Periph Nervous System 16: 1-14.
  10. Baets et al. (2011) Brain 134: 2664-2676.
  11. Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
  12. Nelis et al. (2006) Eur J Hum Genet 4(1): 25- 33.
  13. Azzedine, Bontoux, and LeGuern (Updated October 2015). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  14. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985).
  15. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).
Axonal CMT Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AARS, BSCL2, DNM2, DYNC1H1, GARS, GDAP1, GJB1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, LMNA, LRSAM1, MFN2, MPZ, NEFL, PRPS1, RAB7A, TRPV4, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

885
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81403x1, 81404x1, 81405x4, 81406x4
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Latour et al. (2010) Am J Hum Genet 86:77-82.
  2. McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
  3. Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.o
  4. Claeys et al. (2009) Brain 132:1741-1752.
  5. Harms et al. (2012) Neurol 78:1741-1720.
  6. Poirier et al. (2013) Nat Genet 45(6): 639.
  7. Saporta et al. (2011) Ann Neurol 69(1): 22-33.
  8. Bird (Updated April 2014). Charcot-Marie-Tooth Neuropathy Type 4. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  9. Siskind et al. (2013) J Genet Counsel 22: Information Sheet on Axonal CMT Panel Page 4 of 4 © GeneDx Creation date: 9/2014 422-436. 1
  10. Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
  11. Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
  12. Bird (Updated July 2014). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  13. Weterman et al. (2012) Hum Molec Genet 21(2): 358-370
  14. Guernsey et al. (2010) PLoS Genetics 6(8): 1-7
  15. Reilly et al. (2011) J Periph Nervous System 16: 1-14
  16. Baets et al. (2011) Brain 134: 2664-2676.1
  17. Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
  18. Davidson et al. (2012) J Neurol 259: 1673-1685.
  19. Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197).
  20. Guenther et al. (2007) Hum Mut 28(8): 808-815.
  21. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985).
  22. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158)
Core CMT Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

GJB1, MFN2, MPZ, PMP22
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

884
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1, 81325x1, 81403x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Siskind et al. (2013) Journal of genetic counseling 22 (4):422-36 (PMID: 23604902).
  2. Vallat et al. (2013) Current opinion in neurology 26 (5):473-80 (PMID: 23945280).
  3. Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229).
  4. Bird (Updated March 2014). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genete
  5. Bird (Updated February 2014). Charcot-Marie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org
  6. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.ge
  7. Al-Thihli et al. (2008) American journal of medical genetics. Part A 146A (18):2412-6 (PMID: 18698610).
  8. Baets et al. (2011) Brain : a journal of neurology 134 (Pt 9):2664-76 (PMID: 21840889).
  9. Shy, et al. (2006) Journal of the neurological sciences 242 (1-2):55-66 (PMID: 16414078).
  10. Mazzeo et al. (2008) Acta neurologica Scandinavica 118 (5):328-32 (PMID: 18422810).
  11. Zuchner (Updated August 2013). Charcot-Marie-Tooth Neuropathy type 2A. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org.
  12. Chung et al. (2006) Brain 129: 2103-2118.
  13. Verhoeven et al. (2006) Brain 129: 2093-2102.
  14. Bird (Updated March 2013). Charcot-Marie-Tooth Neuropathy X Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2010. Available at http://www.genetests.org.
  15. Reilly et al. (2011) Journal of the peripheral nervous system: JPNS 16 (1):1-14 (PMID: 21504497).
  16. Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073).
PMP22 Del/Dup

Forms and Documents

Test Requisition Test Info Sheet Physician Guide

Test Details

PMP22
  • Confirmation of clinical diagnosis
  • Identification of at-risk family members
  • Can assist with management/treatment decisions
  • Exon Array CGH

Ordering

742
2 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Bird (Updated May 2010). Hereditary Neuropathy with Liability to Pressure Palsies. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  2. Bird (Updated July 2013). Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010.
  3. Li, J (2012) Semin Neurol. 32(3): 204-214.
  4. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33.
  5. Siskind et al. (2013) J Genet Counsel 22:422-436.
Hereditary Neuropathy Panel

Forms and Documents

Test Requisition Test Info Sheet Physician Guide

Test Details

AARS, ATL1, ATP7A, BSCL2, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GLA, HINT1, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1 (C2ORF23), SBF2, SCN9A, SH3TC2, SLC12A6, SLC52A2, SPTLC1, SPTLC2, TFG, TRPV4, TTR, WNK1, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific known mutation(s) previously identified in an affected family member
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

737
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81325x1, 81404x1, 81405x4, 81406x4
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Rotthier et al. (2012). Nat Rev Neurol 8: 73-85.
  2. McLaughlin et al. (2012) Hum Mutat 33(1): 244-253.
  3. Claeys et al. (2009) Brain 132:1741-1752.
  4. Harms et al. (2012) Neurol 78:1741-1720.
  5. Poirier et al. (2013) Nat Genet 45(6): 639.
  6. Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
  7. Bird (Updated March 2015). CharcotMarie-Tooth Neuropathy Type 1. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  8. Saporta et al. (2011) Ann Neurol 69(1): 22-33
  9. Siskind et al. (2013) J Genet Counsel 22: 422-436.
  10. Capponi et al. (2011) J Peripheral Nervous System 16: 287-294.
  11. Irobi et al. (2004) Hum Molec Genet 13(2): R195-R202.
  12. Bird (Updated April 2015). Charcot-Marie-Tooth Neuropathy Type 2. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org..
  13. Weterman et al. (2012) Hum Molec Genet 21(2): 358-370.
  14. Guernsey et al. (2010) PLoS Genetics 6(8): 1-7.
  15. Reilly et al. (2011) J Periph Nervous System 16: 1-14.
  16. Baets et al. (2011) Brain 134: 2664-2676.
  17. Vallat et al. (2013). Curr Opin Neurol 26(5): 473-480.
  18. Nelis et al. (2006) Eur J Hum Genet 4(1): 25-33
  19. Kim and Kim (Updated June 2013). Charcot-Marie-Tooth Neuropathy X Type 5 In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  20. Davidson et al. (2012) J Neurol 259: 1673-1685.
  21. Azzedine, Bontoux, and LeGuern (Updated July 2010). Charcot-Marie-Tooth Neuropathy Type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http:/
  22. Moizard et al. (2010) Clin Genet 79(3): 243-253.
  23. Ito (Updated June 2012). BSCL2-Related Neurologic Disorders/Seipinopathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org
  24. Blumen et al. (2012) Ann Neurol 71: 509-519.
  25. Kuhlenbaumer G, Timmerman V, Bomont P (Updated June 2012). Giant Axonal Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
  26. Mehta (Updated March 2011). Fabry Disease. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
  27. Guenther et al. (2007) Hum Mut 28(8): 808-815.
  28. Rossor et al. (2012) J Neurol Neurosurg Psychiatry 83: 6-14.
  29. Kim et al. (2013) Orphanet J Rare Dis 8:104
  30. Zuchner et al. (2006) Am J Hum Genet 79(2): 365- 369.
  31. Beetz et al. (2012) Am J Hum Genet 91: 139-145.
  32. Howard et al. (2002) Nat Genet 32: 384-392
  33. Ishiura et al. (2012) Am J Hum Genet 91: 320-329.
  34. Sekijima et al (Updated January 2012). Familial Transthyretin Amyloidosis. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.or
  35. Durr et al. (2004) Arch Neurol 61: 1867-1872
  36. Guelly et al. (2011) Am J Hum Genet 88:99-105
  37. Klein (Updated May 2012) DNMT1- Related Dementia, Deafness, and Sensory Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.gen
  38. Auer-Grumbach et al. (2006) NeuroMolecular Medicine 8: 147-159.
  39. Riviere et al. (2011). Am J Hum Genet 89: 219-230.
  40. Faber et al. (2012) Ann Neurol 71(1): 26-39.
  41. Rotthier et al. (2010) Am J Hum Genet 87: 513-522.
  42. Lo Giudice et al. (2014) Exp Neurol 25: 518-39.
  43. Horga et al. (2015) J. Neurol. 262 (8):1984-6 (PMID: 26194197)
  44. Foley et al. (2014) Brain : A Journal Of Neurology 137 (Pt 1):44-56 (PMID: 24253200)
  45. Boyer et al. (2011) The New England Journal Of Medicine 365 (25):2377-88 (PMID: 22187985)
  46. Goizet et al. (2009) Human Mutation 30 (2):E376-85 (PMID: 18853458)
  47. Jordanova et al. (2006) Nature Genetics 38 (2):197-202 (PMID: 16429158).
CMT Panel

Forms and Documents

Test Requisition Test Info Sheet

Test Details

AARS, BSCL2, DNAJB2, DNM2, DYNC1H1, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, HINT1, HSPB1, HSPB8, IGHMBP2, INF2, KIF5A, LITAF, LMNA, LRSAM1, MFN2, MPZ, MTMR2, NDRG1, NEFL, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SLC12A6, TRPV4, YARS
  • Molecular confirmation of a clinical diagnosis
  • To assist with decisions about treatment and management of individuals with neuropathy
  • Testing of at-risk relatives for specific mutation(s) previously identified in an affected family member
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J778
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81324x1, 81325x1, 81403x1, 81405x1, 81406x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Siskind et al. (2013) Journal of genetic counseling 22 (4):422-36 (PMID: 23604902).
  2. Vallat et al. (2013) Current opinion in neurology 26 (5):473-80 (PMID: 23945280).
  3. Reilly et al. (2009) Journal of neurology, neurosurgery, and psychiatry 80 (12):1304-14 (PMID: 19917815).
  4. Azzedine et al. (2012) Molecular syndromology 3 (5):204-14 (PMID: 23293578).
  5. Saporta et al. (2011) Annals of neurology 69 (1):22-33 (PMID: 21280073).
  6. Murphy et al. (2012) Journal of neurology, neurosurgery, and psychiatry 83 (7):706-10 (PMID: 22577229).