Walker–Warburg Syndrome

Forms and Documents

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).

Forms and Documents

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/.

Forms and Documents

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.

Forms and Documents

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.

Forms and Documents

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.

Forms and Documents

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.

Forms and Documents

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).

Forms and Documents

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
  • Prenatal imaging findings suggestive of lissencephaly
  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J793
3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81404x2, 84105x2, 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. Senapati et al. (2012) J Pediatr Neuroradiol 1 (3):171-184 (PMID: 24078783).
  5. Conte et al. (2016) AJNR Am J Neuroradiol 37 (5):946-51 (PMID: 26721771).
  6. Williams et al. (2017) Br J Radiol :20160902 (PMID: 28134568).
  7. 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
  8. Hehr U, Uyanik G, Aigner L, et al. DCX-Related 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://w