Mitochondrial - Metabolic Genetic Testing

Inborn Errors of Metabolism Next-Generation Panels

Combined Lysosomal and Peroxisomal Disorders Panel

Forms and Documents

Test Details

ABCD1, ABHD5, ACOX1, ADAMTSL2, AGA, AGPS, AGXT, AMACR, ARSA, ARSB, ASAH1, ATP6AP1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, DNAJC5, DNM1L, FUCA1 , GAA, GALC, GALNS, GBA, GLA, GLB1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GRN, GUSB, HEXA, HEXB, HGSNAT, HSD17B4, HYAL1, IDS, IDUA, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PNPLA2, PPT1, PSAP, SCARB2, SCP2, SGSH, SLC17A5 , SMPD1, SUMF1, TPP1, TRIM37, VPS33A
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a lysosomal or peroxisomal disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

J979
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81405x2; 81406x2; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Penati et al. (2017) J. Inherit. Metab. Dis. 40 (4):543-554 (PMID: 28560469)
  2. James et al. (2016) J Paediatr Child Health 52 (3):262-71 (PMID: 27124840)
  3. Giugliani et al. (2016) Expert Rev. Mol. Diagn. 16 (1):113-23 (PMID: 26567866)
  4. Braverman et al. (2016) Mol. Genet. Metab. 117 (3):313-21 (PMID: 26750748)
  5. Steinberg SJ, Raymond GV, Braverman NE, et al. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. 2003 Dec 12 [Updated 2012 May 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washi
  6. Ebberink et al. (2011) Human Mutation 32 (1):59-69 (PMID: 21031596)
  7. Fernández-Marmiesse et al. (2014) Orphanet J Rare Dis 9 :59 (PMID: 24767253)
  8. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2018 Feb 15]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  9. Kok et al. (1995) Hum. Mutat. 6 (2):104-15 (PMID: 7581394)
Lysosomal Disorder Panel

Forms and Documents

Test Details

ABHD5, ADAMTSL2, AGA, ARSA, ARSB, ASAH1, ATP6AP1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSF, DNAJC5, FUCA1 , GAA, GALC, GALNS, GBA, GLA, GLB1, GNE, GNPTAB, GNPTG, GNS, GPC3, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PNPLA2, PPT1, PSAP, SCARB2, SGSH, SLC17A5 , SMPD1, SUMF1, TPP1, VPS33A
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a lysosomal disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis
  • Capillary Sequencing

Ordering

T013
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x1; 81405x2; 81406x2; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Penati et al. (2017) J. Inherit. Metab. Dis. 40 (4):543-554 (PMID: 28560469)
  2. James et al. (2016) J Paediatr Child Health 52 (3):262-71 (PMID: 27124840)
  3. Giugliani et al. (2016) Expert Rev. Mol. Diagn. 16 (1):113-23 (PMID: 26567866)
  4. Fernández-Marmiesse et al. (2014) Orphanet J Rare Dis 9 :59 (PMID: 24767253)
Peroxisomal Disorders Panel

Forms and Documents

Test Details

ABCD1, ACOX1, AGPS, AGXT, AMACR, DNM1L, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, TRIM37
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a peroxisomal disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J978
4 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. Braverman et al. (2016) Mol. Genet. Metab. 117 (3):313-21 PMID: 26750748
  2. Steinberg SJ, Raymond GV, Braverman NE, et al. Zellweger Syndrome Spectrum. 2003 Dec 12 [Updated 2012 May 10]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  3. Ebberink et al. (2011) Human Mutation 32 (1):59-69 PMID: 21031596
  4. Jacobsen et al. (2015). Case Reports in Genetics, 2015, 454526 PMID: 26587300
  5. Moser A. et al, (1999) Ann Neurol 45(1):100-110 PMID: 9894883
  6. Coll M. et al, (2005) Clin Genet 67:418-424 PMID: 15811009
  7. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2018 Feb 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  8. Kok F. et al, (1995) Human Mutation 6104-6115
Creatine Deficiency Syndromes Panel

Forms and Documents

Test Details

GAMT, GATM, SLC6A8
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a creatine deficiency syndrome.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J976
4 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. Mencarelli et al. (2011) American Journal Of Medical Genetics. Part A 155A (10):2446-52 (PMID: 21910234)
  2. Mercimek-Mahmutoglu et al. (2006) Neurology 67 (3):480-4 (PMID: 16855203)
  3. Longo et al. (2011) American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics 157C (1):72-8 (PMID: 21308988)
  4. Mercimek-Mahmutoglu S, Salomons GS. Creatine Deficiency Syndromes. 2009 Jan 15 [Updated 2015 Dec 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  5. Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)
  6. van de Kamp et al. (2013) J. Med. Genet. 50 (7):463-72 (PMID: 23644449)
  7. Mercimek-Mahmutoglu et al. (2014) Human Mutation 35 (4):462-9 (PMID: 24415674)
  8. Stockler-Ipsiroglu et al. (2015) Mol. Genet. Metab. 116 (4):252-9 (PMID: 26490222)
Congenital Disorders of Glycosylation Gene Panel

Forms and Documents

Test Details

ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EPG5, EXT1, EXT2, FKRP, FKTN, FUT8, G6PC3, GALNT3, GFAT1, GMPPA, GMPPB, GNE, GTDC2, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PAPSS2, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PMM2, POFUT1, POGLUT1, POMGNT1, POMK, POMT1, POMT2, RFT1, RPN2, SEC23A, SEC23B, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TRIP11, TUSC3, XYLT1
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a congenital disorder of glycosylation
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J977
6 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. Monticelli et al. (2016) J. Inherit. Metab. Dis. 39 (6):765-780 (PMID: 27393411)
  2. Marques-da-Silva et al. (2017) J. Inherit. Metab. Dis. : (PMID: 2810884)
  3. Van et al. (2016) Glycoconj. J. 33 (3):345-58 (PMID: 26739145)
  4. Krasnewich et al. (2014) Cancer Biomark 14 (1):3-16 (PMID: 24643038)
  5. Jones et al. (2013) Molecular Genetics And Metabolism 110 (1-2):78-85 (PMID: 23806237)
  6. Timal et al. (2012) Human Molecular Genetics 21 (19):4151-61 (PMID: 22492991)
  7. Pérez-Cerdá et al. (2017) J. Pediatr. : (PMID: 28139241)
Disorders Associated with C4 Elevation Panel

Forms and Documents

Test Details

ACAD8, ACADS, ETFA, ETFB, ETFDH, ETHE1
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a creatine deficiency syndrome.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J980
4 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. Wolfe L, Jethva R, Oglesbee D, et al. Short-Chain Acyl-CoA Dehydrogenase Deficiency. 2011 Sep 22 [Updated 2014 Aug 7]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017
  2. Roe CR, Cederbaum SD, Roe DS, Sweetman L, et al. Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism. Mol
  3. Gregersen et al. (2001) Hum Mutat 18 (3):169-189 (PMID: 11524729)
  4. Corydon et al. (2001) Pediatr Res 49(1): 18-23 (PMID: 11134486)
  5. Gallant et al. (2012) Mol Genet Metab 106(1) :55-61 (PMID: 22424739)
  6. Di Meo I, Lamperti C, Tiranti V. Ethylmalonic Encephalopathy. 2017 Sep 21. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  7. Rinaldo P., Cowan TP, and Matern D. Acylcarnitine profile analysis. Genetics in Medicine. 2008;10(2):151.
  8. Multiple Acyl-CoA Dehydrogenase Deficiency; MADD. omim.org. https://www.omim.org/entry/231680?search=231680&highlight=231680. Updated July 9, 2016. Accessed November 29, 2017.
Disorders of Hyperphenylalaninemia and Biopterin Metabolism Panel

Forms and Documents

Test Details

DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
  • Molecular confirmation of a suspected biochemical diagnosis.
  • Testing of patients suspected of having a disorder of hyperphenylalaninemia or biopterin metabolism.
  • Allows for identification of at-risk family members.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

J995
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x2; 81406x1; 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Regier DS, Greene CL. Phenylalanine Hydroxylase Deficiency. 2000 Jan 10 [Updated 2017 Jan 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Longo, et al. (2009) Journal Of Inherited Metabolic Disease 32 (3):333-42 (PMID: 19234759)
  3. Ye et al. (2013) Journal Of Inherited Metabolic Disease 36 (5):893-901 (PMID: 23138986)
  4. Anikster et al. (2017) Am. J. Hum. Genet. 100 (2):257-266 (PMID: 28132689)
  5. Stenson et al. (2014) Human Genetics 133 (1):1-9 (PMID: 24077912)
  6. Leuzzi et al. (2010) Clinical Genetics 77 (3):249-57 (PMID: 20059486)
  7. Friedman et al. (2012) Ann. Neurol. 71 (4):520-30 (PMID: 22522443)
  8. Romstad et al. (2000) Hum. Genet. 107 (6):546-53 (PMID: 11153907)
Fatty Acid Oxidation Panel

Forms and Documents

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
  • Deletion/Duplication Analysis

Ordering

T382
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x2; 81405x2; 81406x2
No
Yes
* 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
Hyperammonemia, Urea Cycle and Transporter Defects Panel

Forms and Documents

Test Details

ACADM, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CA5A, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MUT, NAGS, OAT, OTC, PC, PCCA, PCCB, PDHA1, PIGA, SERAC1, 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
  • Deletion/Duplication Analysis

Ordering

T010
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x3; 81405x2; 81406x2
No
Yes
* 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.
  3. Auron, A.and Brophy, P. (2011) Pediatr Nephrol
  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.
Metabolic Myopathy Panel

Forms and Documents

Test Details

ACAD9, ACADM, ACADVL, AGL, ALDOA, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TANGO2, TK2
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a metabolic myopathy
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T012
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81404x3; 81405x2; 81406x2; 81407x1; 81408x1
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)
Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Gene Panel
Riboflavin Transporter Deficiency and Related Disorders Panel

Mitochondrial Disorders

MitoXpanded Panel

Forms and Documents

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)
Mito Genome Sequencing & Deletion Testing

Forms and Documents

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.
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALAS2, APOPT1, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, C19orf12, CARS2, CLPB, COA5, COA6, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GARS, GCDH, GFER, GFM1, GFM2, GLRX5, GTPBP3, GYG2, HARS2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, ISCU, LAMP2, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS2, MFF, MFN2, MGME1, MICU1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, POLG2, PRKAG2, PUS1, QARS, RARS, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SPAST, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  2. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Longo et al. (2003) Neurol Clin 21 (4):817-31 (PMID: 14743651)
  7. Koenig et al. (2008) Pediatr. Neurol. 38 (5):305-13 (PMID: 18410845)
  8. Zeviani et al. (2004) Brain 127 (Pt 10):2153-72 (PMID: 15358637)
  9. Taylor et al. (2014) JAMA 312 (1):68-77 (PMID: 25058219)
Mitochondrial Focused Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ABCB7, ACAD9, ACO2, AFG3L2, AGK, AIFM1, ALAS2, APOPT1, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, C19orf12, CARS2, CLPB, COA5, COA6, COASY, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GARS, GCDH, GFER, GFM1, GFM2, GLRX5, GTPBP3, GYG2, HARS2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, ISCU, LAMP2, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MARS2, MFF, MFN2, MGME1, MICU1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NR2F1, NUBPL, OPA1, OPA3, OTC, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, POLG2, PRKAG2, PUS1, QARS, RARS, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SPAST, SPG7, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  2. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Koenig et al. (2008) Pediatr. Neurol. 38 (5):305-13 (PMID: 18410845)
  7. Zeviani et al. (2004) Brain 127 (Pt 10):2153-72 (PMID: 15358637)
  8. Taylor et al. (2014) JAMA 312 (1):68-77 (PMID: 25058219)
Mitochondrial Encephalopathy/ Leigh Syndrome Nuclear Gene Panel

Forms and Documents

Test Details

AARS2, ACAD9, ACO2, AFG3L2, AIFM1, APOPT1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C12ORF65, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX20, COX6B1, COX8A, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FH, FOXRED1, GCDH, GFER, GFM1, GFM2, GTPBP3, GYG2, HMGCL, HTRA2, IARS2, IBA57, ISCA2, LARS2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MFN2, MPC1, MPV17, MRPL44, MRPS22, MTFMT, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, RARS2, RMND1, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SERAC1, SLC19A3, SLC22A5, SLC25A46, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

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

References

  1. Baertling et al. (2014) J. Neurol. Neurosurg. Psychiatry 85 (3):257-65 (PMID: 23772060)
  2. Tucker et al. (2010) Curr Neurol Neurosci Rep 10 (4):277-85 (PMID: 20446063)
  3. Gerards et al. (2016) Mol. Genet. Metab. 117 (3):300-12 (PMID: 26725255)
Lactic Acidosis/Pyruvate Metabolism Nuclear Gene Panel

Forms and Documents

Test Details

ACAD9, AGK, AIFM1, ATP5E, ATPAF2, BCS1L, BOLA3, C12ORF65, CARS2, COQ2, COQ4, COQ7, COQ8A, COQ9, COX10, COX14, COX15, COX6B1, CYC1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FBXL4, FDX1L, FH, FOXRED1, GFER, GFM1, GTPBP3, GYG2, HMGCL, HTRA2, IBA57, ISCU, LARS, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MFF, MPC1, MPV17, MRPL12, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA9, NDUFAF1, NDUFAF3, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFS1, NFU1, PARS2, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PNPT1, POLG, POLG2, PUS1, RARS2, RMND1, RNASEH1, RRM2B, SARS2, SCO2, SDHAF1, SERAC1, SFXN4, SLC25A26, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SURF1, TARS2, TAZ, TK2, TMEM70, TPK1, TRMT10C, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81404x5, 81405x2, 81406x1, 81407x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Gray et al. (2014) Cell. Mol. Life Sci. 71 (14):2577-604 (PMID: 24363178)
  2. Sperl et al. (2014) Journal Of Inherited Metabolic Disease : (PMID: 25526709)
  3. Tarnopolsky et al. (2005) Med Sci Sports Exerc 37 (12):2086-93 (PMID: 16331134)
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel

Forms and Documents

Test Details

ACO2, AUH, C12ORF65, CLPB, DGUOK, DNA2, DNAJC19, DNM1L, EARS2, FH, GYG2, ISCA2, MFF, MFN2, MGME1, MTFMT, MTO1, MTPAP, NARS2, NDUFAF3, NR2F1, OPA1, OPA3, PDHX, PDSS1, POLG, POLG2, RNASEH1, RRM2B, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SPG7, SUCLA2, TACO1, TIMM8A, TK2, TMEM126A, TSFM, TWNK, 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81404x1, 81405x2, 81406x2, 81407x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Yu-Wai-Man et al. (2011) Prog Retin Eye Res 30 (2):81-114 (PMID: 21112411)
  2. Oliveira et al. (2005) Dev Med Child Neurol 47 (3):185-9 (PMID: 15739723)
  3. Chinnery P. Mitochondrial Disorders Overview 2000 Jun 8 [Updated 2014 Aug 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.n
  4. van Adel et al. (2009) Journal Of Clinical Neuromuscular Disease 10 (3):97-121 (PMID: 19258857)
  5. Zhu et al. (2009) Acta Biochim. Biophys. Sin. (Shanghai) 41 (3):179-87 (PMID: 19280056)
  6. Fratter et al. (2011) Neurology 76 (23):2032-4 (PMID: 21646632)
  7. Milone et al. (2010) Neurologist 16 (2):84-91 (PMID: 20220442)
  8. Stewart et al. (2008) Neurology 71 (22):1829-31 (PMID: 19029523)
  9. Spiegel et al. (2012) American Journal Of Human Genetics 90 (3):518-23 (PMID: 22405087)
  10. Pilz et al. (2017) J Optom 10 (4):205-214 (PMID: 28040497)
Methylglutaconic Aciduria Nuclear Gene Panel

Forms and Documents

Test Details

AGK, ATP5E, ATPAF2, AUH, CLPB, DNAJC19, HMGCL, HTRA2, 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

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

References

  1. Gunay-Aygun et al. (2005) Mol. Genet. Metab. 84 (1):1-3 (PMID: 15719488)
  2. Gibson et al. (1998) J. Inherit. Metab. Dis. 21 (6):631-8 (PMID: 9762598)
  3. Wortmann et al. (2013) J. Inherit. Metab. Dis. 36 (6):923-8 (PMID: 23296368)
  4. Gibson et al. (1992) J. Pediatr. 121 (6):940-2 (PMID: 1447663)
Congenital Sideroblastic Anemia Panel

Forms and Documents

Test Details

ABCB7, ALAS2, GLRX5, PUS1, SLC19A2, SLC25A38, TRNT1, YARS2
  • Mitochondrial genome large deletion testing
  • Confirmation of a clinical diagnosis
  • To assist in determining the most appropriate therapy, as the response to specific therapeutic modalities depends on the diagnosis
  • Targeted testing for a known familial variant
  • Prenatal diagnosis for known familial variants in nuclear genes in at-risk pregnancies
  • Genetic counseling
  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering

938
4 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81465x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. OMIM, Online Mendelian Inheritance in Man, (TM). McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), http://www.ncbi.nlm.n
  2. Bergmann AK et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatric Blood & Cancer. 2010 Feb 54(2):273-8. (PMID:19731322)
  3. Ohba R et al. Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS). Annals Of Hematology. 2013 Jan 92(1):1-9. (PMID:22983749)
  4. Bekri S, D’Hooghe M, Vermeersch P. X-Linked Sideroblastic Anemia and Ataxia. 2006 Mar 1 [Updated 2014 Apr 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Availab
  5. Aivado M et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells, Molecules & Diseases. 37(1):40-5. (PMID: 16735131)
  6. Guernsey DL et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nature Genetics. 2009 Jun 41(6):651-3. (PMID: 19412178)
  7. Rouault TA and Tong WH. Iron-sulfur cluster biogenesis and human disease. Trends In Genetics : Tig. 2008 Aug 24(8):398-407. (PMID:18606475)
  8. Ye H et al. Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts. The Journal Of Clinical Investigation. 2010 May 120(5):1749-61. (PMID:20364084)
  9. Bykhovskaya Y et al. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). American Journal Of Human Genetics. 2004 Jun 74(6):1303-8. (PMID: 15108122)
  10. Bergmann AK et al. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. The Journal Of Pediatrics. 2009 Dec 155(6):888-892. (PMID: 19643445)
  11. Chakraborty PK et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30 124(18):2867-71. (PMID: 25193871)
  12. Wiseman DH et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 4 122(1):112-23. (PMID: 23553769)
  13. Riley LG et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. American Journal Of Human Genetics. 2010 87(1):52-9. (PMID: 20598274)
  14. Riley LG et al. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet Journal Of Rare Diseases. 2013 8:193. (PMID: 24344687)
  15. DiMauro S, Hirano M. Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [Updated 2011 May 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://w
  16. Bekri S et al. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood. 2000 96(9):3256-64. (PMID: 11050011)
  17. D\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Hooghe M et al. X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. Eu
  18. Maguire A et al. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. British Journal Of Haematology. 2001 Dec 115(4):910-7. (PMID: 11843825)
  19. Bishop DF et al. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the ?-subunit of succinyl-CoA synthetase (SUCLA2). The Journal Of Biological Chemistry. 2012 287(34):28943-55. (PMID:22740690)
  20. Campagna DR et al. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. American Journal Of Hematology. 2014 Mar 89(3):315-9. (PMID:24166784)
  21. Kaneko K et al. Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia. Haematologica. 2014 Feb 99(2):252-61. (PMID:23935018)
  22. . Stenson et al. (2014) The Human Gene Mutation Database (HGMD®) Human genetics 133(1):1-9 (PMID: 24077912)
  23. Kannengiesser C et al. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. Haematologica. 2011 Jun 96(6):808-13. (PMID:21393332)
  24. . Fernandez-Vizarra E et al. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). Journal Of Medical Genetics. 2007 Mar 44(3):173-80. (PMID: 17056637)
  25. Oishi K, Diaz GA. Thiamine-Responsive Megaloblastic Anemia Syndrome. 2003 Oct 24 [Updated 2014 Nov 20]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available fro
  26. Labay V et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nature Genetics. 1999 Jul 22(3):300-4. (PMID: 10391221)
  27. Scharfe C et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. Journal Of Medical Genetics. 2000 Sep 37(9):669-73. (PMID: 10978358)
  28. Shahni R et al. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. American Journal Of Medical Genetics. Part A. 2013 161(9):2334-8. (PMID:23918765)
65 mtDNA Point Mutations plus Large Deletions Panel

Forms and Documents

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

81401x2, 81465x1, 81479x1
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
mtDNA Del/Dup Analysis

Forms and Documents

Test Details

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder
  • Deletion/Duplication Analysis

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
One mtDNA Mutation with Estimated Heteroplasmy Level

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in a family
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory
  • Capillary Sequencing

Ordering

9017
3-4 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

81401x1
No
Yes
* For price inquiries please email zebras@genedx.com
One to Three mtDNA Mutations with Heteroplasmy Level

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in a family.
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory
  • Next-Gen Sequencing

Ordering

453
3-4 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

81401x2
No
Yes
* For price inquiries please email zebras@genedx.com
Two mtDNA Mutations with Estimated Heteroplasmy Level

Forms and Documents

Test Details

  • Carrier testing for a specific mutation previously identified in a family
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory
  • Capillary Sequencing

Ordering

9020
3-4 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

81401x2
No
Yes
* For price inquiries please email zebras@genedx.com
POLG Gene Sequencing

Forms and Documents

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
PUS1 Gene Sequencing

Forms and Documents

Test Details

PUS1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

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.
SDHA Gene Sequencing

Forms and Documents

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.

Inborn Errors Of Metabolism Single Gene Tests

ABCD1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

ABCD1
  • Molecular confirmation of a clinical diagnosis.
  • Testing of patients suspected of having X-linked adrenoleukodystrophy.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
  • Capillary Sequencing
  • MLPA

Ordering

J975
4 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. Engelen M. et al, (2012) Orphanet J Rare Dis 7:51 PMID: 22889154
  2. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2018 Feb 15]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  3. Moser H. et al, (1997) Brain 120:1485-1508 PMID: 9278636
  4. Van Geel B. et al, (2001) Ann Neurol 49(2): 186-194 PMID: 11220738
  5. Moser A. et al, (1999) Ann Neurol 45(1):100-110 PMID: 9894883
  6. Horn M. et al, (2013) Pediatr Neurol (3):212-219 PMID: 23419472
  7. Kemper A. et al, (2017) Genet Med 19(1):121-126 PMID: 27337030
  8. Vogel B. et al, (2015) Mol Genet Metab 114(4):599-603 PMID: 25724074
  9. Kemp S. et al, (2001) Human Mutation 18: 499-515 PMID: 11748843
  10. Wang Y. et al, (2011) Mol Genet Metab 104(1-2):160-166 PMID: 21700483
  11. Berger J. et al, (1994) Biochem Biophys Res Commun 205(3):1638-1643 PMID: 7811247
  12. Pan H. et al, (2005) Pediatr Neurol 33(2):114-120 PMID: 16087056
  13. Bezman L. et al, (2001) Ann Neurol 49(4):512-517 PMID: 11310629
  14. Coll M. et al, (2005) Clin Genet 67:418-424 PMID: 15811009
  15. Kok F. et al, (1995) Human Mutation 6104-6115 PMID: 7581394
ACAD8 Gene Sequencing

Forms and Documents

Test Details

ACAD8
  • Confirmation of biochemical diagnosis
  • Discriminate between IBD deficiency and SCAD deficiency
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

351
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Oglesbee et al., (2007) Genet Med 9(2):108-116
ACADM Gene Sequencing

Forms and Documents

Test Details

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

Ordering

2682
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81401x1
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. Chace, D.H. et al, (2002) Annu Rev Genomics, Hum Genet 3:17-45.
  2. Maier, E.M. et al, (2005) Hum Mutat 25:443-52.
  3. Andresen, B.S. et al, (2001) Am J Hum Genet 68:1408-1418.
ACADM Select Exons Sequencing

Forms and Documents

Test Details

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

Ordering

2681
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1
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
ACADM Remaining Exons Sequencing

Forms and Documents

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

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
ACADS Gene Sequencing

Forms and Documents

Test Details

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

Ordering

269
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
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. Nagan, N. et al, (2003) Mol Gen Metab 78:239-246
  2. Pedersen, CB et al (2003) J Biol Chem 278:47449-47458
  3. Zytkovicz, T.H. et al, (2001) Clin Chem 47:1945-1955
  4. van Maldegem, B.T. et al, (2006) JAMA 296:943-952
  5. Corydon M. J. et al, (2001) Pediatr Res 49: 18-23
  6. Gregersen N. et al, (2001) Hum Mutat 18:169-189
ACADSB Gene Sequencing

Forms and Documents

Test Details

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

Ordering

383
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

References

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  3. Gibson et al., (2000) Pediatr Res 47:830-3
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Sass et al., (2008) Mol Genet Metab 93:30-35
  7. Korman, (2006) Mol Genet Metab 89:289-299
ACADSB (M389V) Mutation Analysis

Forms and Documents

Test Details

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

Ordering

529
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

References

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Korman, (2006) Mol Genet Metab 89:289-299
  3. Sass et al., (2008) Mol Genet Metab 93:30-35
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  7. Gibson et al., (2000) Pediatr Res 47:830-3
ACADVL Gene Sequencing

Forms and Documents

Test Details

ACADVL
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

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
ACAT1 Gene Sequencing

Forms and Documents

Test Details

ACAT1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

354
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero, et al., (1987) J Inher Metab Dis 10 (Suppl 2):2769
  2. Fukao et al., (1995) Hum Mutat 5:113-120
  3. Fukao et al., (2007) Mol Genet Metab 92:375-378
  4. Zhang et al., (2004) Pediatr Res 56(1) :60-4
  5. Fukao et al., (2001) Mol Genet Metab 72 :109- 114
ACSF3 Gene Sequencing

Forms and Documents

Test Details

ACSF3
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

659
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 270.09 Aciduria, organic
* For price inquiries please email zebras@genedx.com

References

  1. Alfares et al., (2011) J Med Genet 48:602-605. 2. Sloan et al., (2011) Nat Genet 43:883-886.
AGA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

658
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 272.7 Lipidoses (Fabry Disease)
  • 319 Unspecified mental retardation, Mental deficiency NOS, Mental subnormality NOS
* For price inquiries please email zebras@genedx.com

References

  1. Laitinen et al., (1997) Clin Genet 51 :174-178.
  2. Saarela et al., (2004) Hum Mutat 24 :350-1.
  3. Fisher, K. and Aronson, N. (1991) J Biol Chem 266 :12105-13.
  4. Saarela et al., (2001) Hum Mol Genet 10 :983-995.
  5. Ikonen et al., (1991) Proc Natl Acad Sci USA 88 :11222-11226.
  6. Jalanko et al., (1995) Hum Mol Genet 4 :435-441.
  7. Ikonen et al., (1992) J Biol Chem 267 :8715-8718.
  8. Isoniemi et al., (1995) Hum Mutat 5 :318-326.
  9. Peltola et al., (1996) Hum Mol Genet 5 :737-743.
ARG1 Gene Sequencing

Forms and Documents

Test Details

ARG1
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

465
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Uchino et al., (1995) Hum Genet 96:255-260.
  2. Korman et al., (2004) Prenat Diagn 24:857-860.
  3. Cardoso et al., (1999) Hum Mutat 14:355-6.
  4. Crombez, E. and Cederbaum, S. (2005) Mol Genet Metab 84:243-251.
ARSA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

563
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Harvey et al., (1998) Hum Mol Genet 7 :1215-1219.
  2. Gieselmann et al., (1994) Hum Mutat 4:233-242.
  3. Eng et al., (2003) Hum Mutat 22:418-9.
  4. Bertelli et al., (2006) J Clin Neurosci 13:442-448.
  5. Eng et al., (2004) Am J Med Genet A 128A:95-7.
  6. Biffi et al., (2008) Clin Genet 74:349-357.
  7. Grossi et al., (2008) Hum Mutat 29:E220-30.
  8. Fluharty, A. (Updated [Sept. 30, 2008]) Arylsulfatase A Deficiency. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org.
ARSB Gene Sequencing

Forms and Documents

Test Details

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

Ordering

565
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. Petry et al., (2005) J Inherit Metab Dis 28:1027-1034.
  2. Arlt et al., (1994) J Biol Chem 269:9638-9643.
  3. Villani et al., (2010) Genet Test Mol Biomarkers 14:113-120.
  4. Garrido et al., (2007) Mol Genet Metab 92:122-130.
  5. Karageorgos et al., (2007) Hum Mutat 28:897-903.
  6. Valayannopoulos et al., (2010) Orphanet J Rare Dis 5:5. Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - November 2011 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
ASL Gene Sequencing

Forms and Documents

Test Details

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

Ordering

426
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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
* For price inquiries please email zebras@genedx.com

References

  1. Barbosa et al., (1991) J Biol Chem 266:5286.
  2. Mercimek-Mahmutoglu et al., (2010) Mol Genet Metab 100:24.
  3. Al- Sayed, et al., (2005) J Inherit Metab Dis 28:877-883
  4. Imtiaz BMC Res Notes 18:79.
  5. Linnebank, et al., (2002) Hum Genet 111:350-359.
ASPA Gene Sequencing & Del/Dup

Forms and Documents

Test Details

ASPA
  • Confirmation of biochemical diagnosis
  • Diagnosis of a mild disease presentation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

564
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81200x1, 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)
* For price inquiries please email zebras@genedx.com

References

  1. Matalon, R. and Michals-Matalon, K. (Updated [August 11, 2011]) Canavan Disease. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genete
  2. Zeng et al., (2006) Molec Genet Metab 89 :156-163.
  3. Kaul et al., (1994) Am J Hum Genet 55 :34-41.
  4. Zeng et al., (2002) J Inherit Metab Dis 25 :557-570.
ASS1 Gene Sequencing

Forms and Documents

Test Details

ASS1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

382
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
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
* For price inquiries please email zebras@genedx.com

References

  1. Gao, et al. (2003) Hum Mutat 22:24-34
  2. Haberle, et al. (2002) Hum Genet 110:327-333
  3. GeneTests http://www.genetests.org/
  4. Human Gene Mutation Database: www.hgmd.cf.ac.uk
  5. Kobayashi, et al. (1995) Hum Genet 96:454- 463
  6. Engel et al. (2009) Hum Mutat 30:300-307
AUH Gene Sequencing

Forms and Documents

Test Details

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

Ordering

501
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Ly et al., (2003) Hum Mutat 21:401-407.
  2. Illsinger et al., (2004) Pediatr Neurol 30:213-215.
  3. Matsumori et al., (2005) Pediatr Int 47:684-686.
BCKDHA Gene Sequencing

Forms and Documents

Test Details

BCKDHA
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

4881
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Henneke et al., (2003) Hum Mutat 22:417
  2. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
  3. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  4. Nellis et al., (2003) Mol Genet Metab 80:189-195
  5. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  6. Quental et al., (2008) Mol Genet Metab 94:148-156
BCKDHB Gene Sequencing

Forms and Documents

Test Details

BCKDHB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

4882
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Quental et al., (2008) Mol Genet Metab 94:148-156
  2. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  3. Nellis et al., (2003) Mol Genet Metab 80:189-195
  4. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  5. Henneke et al., (2003) Hum Mutat 22:417
  6. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
BTD Gene Sequencing

Forms and Documents

Test Details

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

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
CBS Gene Sequencing

Forms and Documents

Test Details

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

Ordering

331
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Kraus et al., (1999) Hum Mutat 13:362-375
  2. Kruger et al., (2003) Hum Mutat 22:434-441
  3. Linnebank et al., (2004) Hum Mutat 24:352-353
  4. Urreizti et al., (2006) J Hum Genet 51:305-313
  5. Refsum et al., (2004) J Pediatr 144 :830-832
CPT1A Gene Sequencing

Forms and Documents

Test Details

CPT1A
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

425
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Bennett, M. (Updated [Mar. 24, 2009]).
  2. Bennett et al., (2004) Mol Genet Metab 82:59-63.
  3. Korman et al., (2005) Mol Genet Metab 86:337-343.
  4. Gobin et al., (2002) Hum Genet 111:179-189.
  5. Brown et al., (2001) J Lipid Res 42:1134-1142.
  6. Bonnefont et al., (2004) Mol Aspects Med 25:495-520.
CPT2 Gene Sequencing

Forms and Documents

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].
DBT Gene Sequencing

Forms and Documents

Test Details

DBT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

4883
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Quental et al., (2008) Mol Genet Metab 94:148-156
  2. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  3. Nellis et al., (2003) Mol Genet Metab 80:189-195
  4. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  5. Henneke et al., (2003) Hum Mutat 22:417
  6. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
DHCR7 Gene Sequencing

Forms and Documents

Test Details

DHCR7
  • Confirmation of a suspected clinical diagnosis
  • Carrier testing in siblings or other relatives
  • Capillary Sequencing

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
DLD Gene Sequencing

Forms and Documents

Test Details

DLD
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

490
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
  2. Quental et al., (2008) Mol Genet Metab 94:148-156
  3. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  4. Nellis et al., (2003) Mol Genet Metab 80:189-195
  5. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  6. Henneke et al., (2003) Hum Mutat 22:417
ETFA Gene Sequencing

Forms and Documents

Test Details

ETFA
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

278
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
* For price inquiries please email zebras@genedx.com

References

  1. Wen et al., (2010) J Neurosurg Psychiatry 81:231-236.
  2. Yotsumoto et al., (2008) Mol Genet Metab 94:61-67.
  3. Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
  4. Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
  5. Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
  6. Gordon, N. (2006) Brain Dev 28(3):136-140.
  7. Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.
  8. Olsen, RKJ, et al., (2007) Brain 130:2045-2054.
ETFB Gene Sequencing

Forms and Documents

Test Details

ETFB
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

279
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
* For price inquiries please email zebras@genedx.com

References

  1. Wen et al., (2010) J Neurosurg Psychiatry 81:231-236.
  2. Yotsumoto et al., (2008) Mol Genet Metab 94:61-67.
  3. Olsen, RKJ, et al., (2007) Brain 130:2045-2054.
  4. Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
  5. Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
  6. Gordon, N. (2006) Brain Dev 28(3):136-140.
  7. Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
  8. Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.
ETFDH Gene Sequencing

Forms and Documents

Test Details

ETFDH
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

280
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
* For price inquiries please email zebras@genedx.com

References

  1. Wen et al., (2010) J Neurosurg Psychiatry 81:231-236.
  2. Olsen, RKJ, et al., (2007) Brain 130:2045-2054.
  3. Yotsumoto et al., (2008) Mol Genet Metab 94:61-67.
  4. Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
  5. Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
  6. Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
  7. Gordon, N. (2006) Brain Dev 28(3):136-140.
  8. Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.
ETHE1 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

ETHE1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

558
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 348.3 Encephalopathy, not elsewhere classified
* For price inquiries please email zebras@genedx.com

References

  1. Mineri et al., (2008) J Med Genet 45:473-478.
  2. Tiranti et al., (2006) J Med Genet 43:340-346.
  3. Tiranti et al., (2009) Nature Med 15:200-205.
FAH Gene Sequencing

Forms and Documents

Test Details

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

Ordering

3661
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Bergman et al., (1998) Hum Mutat 12 :19-26.
  2. Rootwelt et al., (1994) Am J Hum Genet 55 :1122-1127.
  3. Grompe et al., (1994) N Engl J Med 11(6):353-7.
  4. St-Louis, M. and Tanguay R.M. (1997) Hum Mutat 9 :291- 299.
  5. Arranz et al., (2002) Hum Mutat 20:180-188.
FUCA1 Gene Sequencing

Forms and Documents

Test Details

FUCA1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

661
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 271.8 Other specified disorders of carbohydrate transport and metabolism Essential benign pentosuria Fucosidosis Glycolic aciduria Hyperoxaluria (primary) Mannosidosis Oxalosis Xylosuria Xylulosuria
* For price inquiries please email zebras@genedx.com

References

  1. Willems et al., (1991) Am J Med Genet 38 :111-131.
  2. Willems et al., (1999) Euro J Hum Genet 7:60-67.
GAA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

287
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 429.3 Cardiomegaly
  • 271 Disorders of carbohydrate transport and metabolism Excludes: abnormality of secretion of glucagon (251.4) diabetes mellitus (249.0-249.9, 250.0-250.9) hypoglycemia NOS (251.2) mucopolysaccharidosis (277.5)
  • 786.9 Respiratory insufficiency
* For price inquiries please email zebras@genedx.com

References

  1. Kroos et al., (1995) J Med Genet 32:836-837.
  2. Raben et al, (2002) Curr Molec Med 2:145-166.
  3. Kroos et al, (2007) Neurology 68:110-115.
  4. Hermans et al, (2004) Hum Mut 23:47-56.
  5. Montalvo et al., (2006) Hum Mut 27:999-1006.
  6. McCready et al., (2007) Mol Genet Metab 92:325-335.
  7. Oba-Shinjo et al., (2009) J Neurol 256:1881-1890.
  8. Pittis et al., (2008) Hum Mutat 29:E27-36.
  9. Joshi et al., (2008) J Inherit Metab Dis #113 Online
  10. Van der Kraan et al., (1994) Biochem Biophys Res Commun 203:1535-41.
GALC Gene Sequencing & Del/Dup

Forms and Documents

Test Details

GALC
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

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.
GALK1 Gene Sequencing

Forms and Documents

Test Details

GALK1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

499
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 366.44 Cataract associated with other syndromes, Code first underlying condition, as: craniofacial dysostosis (756.0) galactosemia (271.1)
  • 271.1 Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
* For price inquiries please email zebras@genedx.com

References

  1. Hennermann et al., (2011) J Inherit Metab Dis Feb 3. [Epub ahead of print].
  2. Bosch et al., (2002) J Inherit Metab Dis 25:629-634.
  3. Hunter et al., (2002) Pediatr Res 51:602-6.
  4. Hunter et al., (2001) Hum Mutat 17:77-8.
  5. Kolosha et al., (2000) Hum Mutat 15:447-453.
  6. Asada et al., (1999) J Hum Genet 44:377-382.
  7. Park et al., (2007) Mol Genet Metab 91:234-238.
  8. Park et al., (2009) BMC Med Genet 10:29.
GALNS Gene Sequencing

Forms and Documents

Test Details

GALNS
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing

Ordering

608
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
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. Tomatsu et al., (2005) Hum Mutat 26:500-512.
  2. Tomatsu et al., (2004) Hum Mutat 24:187.
GALT Gene Sequencing & Del/Dup

Forms and Documents

Test Details

GALT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

349E
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1, 81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 271.1 Galactosemia, Galactose-1-phosphate uridyl transferase deficiency, Galactosuria
* For price inquiries please email zebras@genedx.com

References

  1. Elsas, L and Lai, K (1998) Genet Med 1 :40-8
  2. Elsas, L. (Updated [September 27, 2007]). Galactosemia
  3. Kozak et al., (1999) Hum Mutat 15 :206
  4. Barbouth et al., (2006) Genet Med 8:176-182
  5. Bosch et al., (2005) Hum Mutat 25 :502
GCDH Gene Sequencing

Forms and Documents

Test Details

GCDH
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

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.
GK Gene Sequencing

Forms and Documents

Test Details

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

Ordering

438
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Dipple et al., (2001) Hum Genet 109:55-62
  2. Sjarif et al., (2004) Eur J Hum Genet 12:424-432
  3. Sjarif et al., (1998) J Med Genet 35:650-656
  4. Gaudet et al., (2000) Am J Hum Genet 66:1558-1568
  5. Sargent et al., (2000) J Med Genet 37:434-441
  6. Hellerud et al., (2004) Acta Paediatr 93:911-921
  7. Hellerud et al., (2003) Clin Chem Lab Med 41:46-55
  8. Walker et al., (1996) Am J Hum Genet 58:1205-1211
GLA Gene Sequencing

Forms and Documents

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)
GLB1 Gene Sequencing

Forms and Documents

Test Details

GLB1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

657
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
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
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Caciotti et al., (2011) Biochim Biophys Acta 1812 :782-790.
  2. Santamaria et al., (2006) Hum Mutat 27 :1060.
  3. Morrone et al., (2000) Hum Mutat 15 :354-366.
  4. Caciotti et al., (2005) Hum Mutat 25 :285-292.
  5. Santamaria et al., (2007) Clin Genet 71 :273-279.
  6. Hofer et al., (2010) Clin Genet 78 :236-246.
  7. Hofer et al., (2009) Hum Mutat 30 :1214-1221.
  8. Higaki et al., (2011) Hum Mutat 32 :843-852.
  9. Santamaria et al., (2007) J Lipid Res 48 :2275-82.
GNS Gene Sequencing & Del/Dup

Forms and Documents

Test Details

GNS
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

609
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
Yes
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. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  2. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  3. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  4. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  5. Mok A. et al., (2003) Genomics 81:1-5.
  6. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  7. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  8. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  9. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  10. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  11. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
HADH Gene Sequencing

Forms and Documents

Test Details

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

Ordering

508
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
  • 251.1 Other specified hypoglycemia Hyperinsulinism: NOS ectopic functional Hyperplasia of pancreatic islet beta cells NOS Excludes: hypoglycemia in diabetes mellitus (249.8, 250.8) hypoglycemia in infant of diabetic mother (775.0) hypoglycemic coma (251.0) neonatal hypoglycemia (775.6) Use additional E code to identify cause, if drug-induced
* For price inquiries please email zebras@genedx.com

References

  1. Glaser, B. (Updated [June 15, 2010]). Familial Hyperinsulinism (FHI). In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org.
  2. Li et al., (2010) J Biol Chem 285:31806-31818.
  3. Kapoor et al., (2009) J Clin Endocrinol Metab 94:2221-2225.
  4. Bennett et al., (2006) Mol Genet Metab 89:74-79.
  5. Di Candia et al., (2009) Eur J Endocrinol 60:1019-23.
  6. Martins et al., (2011) J Inherit Metab Dis [Epub ahead of print].
  7. Filling et al., (2008) Biochem Biophys Res Commun 368:6-11.
  8. Flanagan et al., (2011) J Clin Endocrinol Metab 96:E498-502.
HADHA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

2712
6-8 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. 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
HADHA Common Mutation (c.1528 G>C)

Forms and Documents

Test Details

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

Ordering

2711
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

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. 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
HADHB Gene Sequencing

Forms and Documents

Test Details

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

Ordering

272
6-8 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. 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
HEXA Gene Sequencing

Forms and Documents

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

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.
HEXB Gene Sequencing & Del/Dup

Forms and Documents

Test Details

HEXB
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

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.
HGSNAT Gene Sequencing

Forms and Documents

Test Details

HGSNAT
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing

Ordering

593
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
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. (1997) Hum Mol Gen 6:1573-1579.
  2. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  3. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  4. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  5. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  6. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  7. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  8. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  9. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  10. Mok A. et al., (2003) Genomics 81:1-5.
  11. Beesley, C. et al. (1998) J Med Genet 35:910-914.
HLCS Gene Sequencing

Forms and Documents

Test Details

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

Ordering

320
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Suzuki et al. (2005) Hum Mutat 26:285-290
  2. Santer et al. (2003) Mol Genet Metab 79:160-166
  3. Yang et al (2001) Hum Genet 109:526-534
  4. Dupuis et al. (1996) Hum Mol Genet 5:1011-1016
HMGCL Gene Sequencing

Forms and Documents

Test Details

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

Ordering

3211
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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)
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Al-Sayed et al., (2006) BMC Med Genet 7:86
  2. Cardoso et al., (2004) Mol Genet Metab 82:334-338
  3. Muroi et al., (2000) Hum Genet 107:320-326
  4. Menao et al., (2009) Hum Mutat 30:E520-9
  5. Pie et al., (2007) Mol Genet Metab 92:198-209
HPD Gene Sequencing

Forms and Documents

Test Details

HPD
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancie
  • Capillary Sequencing

Ordering

495
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Item et al., (2007) Mol Genet Metab 91:379-383.
  2. Tomoeda et al., (2000) Mol Genet Metab 71:506-510.
  3. Ruetschi et al., (2000) Hum Genet 106:654-662.
HSD17B10 Gene Sequencing

Forms and Documents

Test Details

HSD17B10
  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

463
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Lenski et al., (2007) Am J Hum Genet 80:372-377
  2. Garcia-Villoria et al., (2009) Clin Biochem 42:27-33
  3. Ofman et al., (2003) Am J hum Genet 72:1300-1307.
  4. Yang et al., (2007) Mol Genet Metab 92:36-42.
  5. Rauschenberger et al., (2010) EMBO Mol Med 2:51-62
IDUA Gene Sequencing

Forms and Documents

Test Details

IDUA
  • Molecular confirmation of a clinical diagnosis.
  • Testing of patients suspected of having Mucopolysaccharidosis Type I.
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
  • Capillary Sequencing

Ordering

T386
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. Scott et al. (2013) The Journal Of Pediatrics 163 (2):498-503 (PMID: 23465405)
  2. Clarke LA. Mucopolysaccharidosis Type I. 2002 Oct 31 [Updated 2016 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.n
  3. Stenson et al. (2014) Human genetics 133 (1):1-9 (PMID: 24077912)
  4. Breen et al. (2016) Hum Genome Var 3 :16031 (PMID: 27766162)
  5. Terlato et al. (2003) Genet. Med. 5 (4):286-94 (PMID: 12865757)
  6. Bertola et al. (2011) Hum. Mutat. 32 (6):E2189-210 (PMID: 21394825)
  7. Beesley et al. (2001) Hum. Genet. 109 (5):503-11 (PMID: 11735025)
IVD Gene Sequencing

Forms and Documents

Test Details

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

Ordering

3191
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 276.2 Acidosis Acidosis
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103
IVD Tier 1

Forms and Documents

Test Details

IVD
  • Confirmation of biochemical diagnosis
  • Mutation testing following a positive newborn screen for IVA to rule out the common c.932 C?T mutation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

3192
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81400x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 276.2 Acidosis Acidosis
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103
IVD Tier 2

Forms and Documents

Test Details

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

Ordering

3193
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 276.2 Acidosis Acidosis
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Ensenauer R. et al., (2004) Am J Hum Genet 75 :1136-1142
  2. Vockley J. et al., (2000) Am J Hum Genet 66 :356-367
  3. Lin, WD et al., (2007) Mol Genet Metab 90 :134-139
  4. Lee, YW et al., (2007) Mol Genet Metab 92 :71-77
  5. Vockley, J and Ensenauer R. (2006) Am J Med Genet C Semin Med Genet 142:95-103
LIPA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

655
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 789.1 Hepatomegaly Enlargement of liver
  • 272.7 Lipidoses (Fabry Disease)
  • 272.4 Other and unspecified hyperlipidemia Alpha-lipoproteinemia Hyperlipidemia NOS Hyperlipoproteinemia NOS
* For price inquiries please email zebras@genedx.com

References

  1. Lohse et al., (2000) J Lipid Res 41:23-31.
  2. Pagani et al., (1998) J Lipid Res 39 :1382-1388.
  3. Pisciotta et al., (2000) Mol Genet Metab 97 :143-148.
  4. Anderson et al., (1999) Mol Genet Metab 68 :333-345.
  5. Lohse et al., (1999) J Lipid Res 40 :221-228.
  6. Pagani et al., (1996) Hum Mol Genet 5 :1611-1617.
  7. Aslanidis et al., (1996) Genomics 33 :85-93.
MAT1A Gene Sequencing

Forms and Documents

Test Details

MAT1A
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

473
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Couce et al., (2008) J Inherit Metab Dis Online
  2. Chien et al., (2005) Early Hum Dev 81:529-533
  3. Chou, J. (2000) Pharmacol Ther 85:1-9
  4. Ubagai et al., (1995) J Clin Invest 96:1943-1947
  5. Chamberlin et al., (1996) J Clin Invest 98:1021-1027
  6. Chamberlin et al., (1997) Am J Hum Genet 60:540-546
  7. Chamberlin et al., (2000) Am J Hum Genet 66:347-355Chamberlin et al., (2000) Am J Hum Genet 66:347-355
MCCC1 Gene Sequencing

Forms and Documents

Test Details

MCCC1
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2882
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 277.8 Other specified disorders of metabolism
  • 270.9 Unspecified disorder of amino-acid metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Stadler, SL, et al. (2006) Hum Mutat 27(8):748-759
  2. Dantas, MF, et al. (2005) Hum Mutat 26(2):164
  3. Baumgartner, MR, et al. (2001) J Clin Invest 107(4):495-504
MCCC2 Gene Sequencing

Forms and Documents

Test Details

MCCC2
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2881
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 277.8 Other specified disorders of metabolism
  • 270.9 Unspecified disorder of amino-acid metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Stadler, SL, et al. (2006) Hum Mutat 27(8):748-759
  2. Dantas, MF, et al. (2005) Hum Mutat 26(2):164
  3. Baumgartner, MR, et al. (2001) J Clin Invest 107(4):495-504
MCOLN1 Gene Sequencing

Forms and Documents

Test Details

MCOLN1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2432
4-5 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
MLYCD Gene Sequencing

Forms and Documents

Test Details

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

Ordering

404
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

References

  1. Malvagia et al., (2007) Ann Hum Genet 71:705-712
  2. Salomons et al., (2007) J Inherit Metab Dis 30:23- 28
  3. Wightman et al., (2003) Hum Mutat 22:288-300
MMAA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

276
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43
MMAB Gene Sequencing

Forms and Documents

Test Details

MMAB
  • 1. Confirmation of a biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

277
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Worgan, LC et al., (2006) Hum Mut 27:31-43
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
MMACHC Gene Sequencing

Forms and Documents

Test Details

MMACHC
  • Confirmation of a biochemical/clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

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
MSUD Sequencing panel

Forms and Documents

Test Details

BCKDHA, BCKDHB, DBT
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Capillary Sequencing

Ordering

488
4-6 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1, 81406x2
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.3 Disturbances of branched-chain amino-acid metabolism, Disturbances of metabolism of leucine, isoleucine, and valine, Hypervalinemia Intermittent branched-chain ketonuria, Leucine-induced hypoglycemia, Leucinosis, Maple syrup urine disease
* For price inquiries please email zebras@genedx.com

References

  1. Quental et al., (2008) Mol Genet Metab 94:148-156
  2. Flaschker et al., (2007) J Inherit Metab Dis 30:903-909
  3. Nellis et al., (2003) Mol Genet Metab 80:189-195
  4. Rodriguez-Pombo et al., (2006) Hum Mutat 27:715
  5. Henneke et al., (2003) Hum Mutat 22:417
  6. Nellis, M and Danner, D (2001) Am J Hum Genet 68:232-237
MUT Gene Sequencing

Forms and Documents

Test Details

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

Ordering

2752
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
  • 270.7 Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  3. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43
NAGLU Gene Sequencing

Forms and Documents

Test Details

NAGLU
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing

Ordering

592
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
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. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  2. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
  3. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  4. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  5. Mok A. et al., (2003) Genomics 81:1-5.
  6. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  7. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  8. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  9. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  10. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  11. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
NAGS Gene Sequencing

Forms and Documents

Test Details

NAGS
  • Confirmation of biochemical diagnosis
  • Differentiation between NAGS deficiency and CPS1 deficiency
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

478
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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
* For price inquiries please email zebras@genedx.com

References

  1. Caldovid et al., (2010) Mol Genet Metab 100:513-519.
  2. Caldovid et al., (2007) Hum Mutat 28:754-759.
NEU1 Gene Sequencing

Forms and Documents

Test Details

NEU1
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing

Ordering

648
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 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. Caciotti et al., (2009) J Neurol 256:1911-1915.
  2. Bonten et al., (2000) Hum Mol Genet 9:2715-2725.
  3. Coutinho et al., (2012) Clin Genet 2012) Clin Genet 81:379-393.
  4. Pattison et al., (2004) Hum Mutat 23:32-39.
  5. Seyrantepe et al., (2003) Hum Mutat 22:343-352.
NPC1/NPC2 Gene Sequencing

Forms and Documents

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
NPC1 Gene Sequencing

Forms and Documents

Test Details

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

Ordering

246
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
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
NPC2 Gene Sequencing

Forms and Documents

Test Details

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

Ordering

247
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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 & Del/Dup (Females)

Forms and Documents

Test Details

OTC
  • Confirmation of biochemical diagnosis
  • Identification of females heterozygous for a mutation
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

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
OTC Gene Sequencing (Males)

Forms and Documents

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
PAH Gene Sequencing

Forms and Documents

Test Details

PAH
  • Confirmation of a biochemical diagnosis
  • Carrier testing for at-risk relatives
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutations
  • Capillary Sequencing

Ordering

273
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

References

  1. PAHdb: http://www.pahdb.mcgill.ca
  2. Guldberg, P. et al., A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype . Am J Hum Genet. 63: 71-79, 1998
PC Gene Sequencing

Forms and Documents

Test Details

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

Ordering

540
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Carbone et al., (2002) Hum Mutat 20:48-56.
  2. Monnot et al., (2009) Hum Mutat 30: 734-740.
  3. Wang et al., (2008) Mol Genet Metab 95:31-38.
  4. Carbone et al., (1998) Am J Hum Genet 62:1312-1319.
PCCA Gene Sequencing

Forms and Documents

Test Details

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

Ordering

2902
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. Desviat et al., (2009) Mol Genet Metab 96:171-176
  2. Desviat, L.R. et al (2006) J Hum Genet 51:992-997
  3. Desviat, L.R., et al (2004) Molec Genet Metab 83:28-37
  4. Yang, X. et al (2004) Molec Genet Metab 81:335-342
  5. Perez, B., et al (2003) Molec Genet Metab 78:59-67
PCCB Gene Sequencing

Forms and Documents

Test Details

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

Ordering

2901
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. Desviat, L.R. et al (2006) J Hum Genet 51:992-997
  2. Yang, X. et al (2004) Molec Genet Metab 81:335-342
  3. Perez, B., et al (2003) Molec Genet Metab 78:59-67
  4. Desviat, L.R., et al (2004) Molec Genet Metab 83:28-37
  5. Desviat et al., (2009) Mol Genet Metab 96:171-176
PDHA1 Gene Sequencing

Forms and Documents

Test Details

PDHA1
  • 1. Confirmation of biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

461
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
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
  • 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. Ridout et al., (2008) Hum Genet 124:187-193
  2. Lissens et al., (2000) Hum Mutat 15:209-219
  3. Brown et al., (2006) Dev Med Child Neurol 48:756-760
  4. Quintana et al., (2010) Clin Genet 77:474-482
PDHB Gene Sequencing

Forms and Documents

Test Details

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

Ordering

462
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 277.87 Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
  • 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. Brown et al., (2004) Hum Genet 115:123-127
  2. Okajima et al., (2008) Mol Genet Metab 93:371-380
  3. Brown et al., (2006) Dev Med Child Neurol 48:756-760
PSAP Gene Sequencing

Forms and Documents

Test Details

PSAP
  • Confirmation of biochemical diagnosis
  • Testing of patients with the phenotype of metachromatic leukodystrophy, Gaucher disease or Krabbe disease without the characteristic in vitro enzyme deficiency.
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

528
4-5 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)
  • 330.0 Leukodystrophy
  • 272.7 Lipidoses (Fabry Disease)
  • 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. Diaz-Font et al., (2005) Hum Genet 117:275- 277.
  2. Henseler et al., (1996) Am J Hum Genet 58:65-74.
  3. Kretz et al., (1990) Proc Natl Acad Sci 87:2541-2544.
  4. Regis et al., (1999) Eur J Hum Genet 7:125-130.
  5. Wrobe et al., (2000) J Inherit Metab Dis 23:64-76.
  6. Tylki-Szymanska et al., (2007) Clin Genet 72:538-542.
  7. Hulkova et al., (2001) Hum Mol Genet 10:927-940.
  8. Kuchar et al., (2009) Am J Med Genet A 149A:613-21.
  9. Schnabel et al., (1992) J Biol Chem 267:3312-5.
  10. Spiegel et al., (2005) Mol Genet Metab 84:160-166.
  11. Zuhair et al., (2009) J Child Neurol 24:1513-1519.
  12. Vaccaro et al., (2010) Hum Mol Genet 19:2987-2997.
  13. Fernandes J. (2006). Inborn Metabolic Diseases. Heidelberg, Germany: Springer Medizin Verlag.
PTS Gene Sequencing

Forms and Documents

Test Details

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

Ordering

380
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

References

  1. Shintaku (2002) Curr Drug Metab 3:123-131
  2. Longo (2009) J Inher Metab Dis 32:333-342
  3. Scherer-Oppliger et al., (1999) Hum Mutat 13:286-289
  4. Blau et al., (2000) Hum Mutat 16:54-60
  5. Liu et al., (2001) Clin Chim Acta 313:157-169
  6. Thony et al., (1994) Am J Hum Genet 54:782-792
  7. Oppliger et al., (1995) J Biol Chem 270:29498-29506
  8. Kluge et al., (1996) Eur J Biochem 240:477-484
  9. Opppliger et al., (1997) Hum Mutat 10:25-35
  10. Romstad et al., (1999) Clin Chem 45:2102-2108
  11. Dudesek et al., (2001) Eur J Pediatr 160:267-276
  12. BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online) (http://www.biopku.org/BioPKU_DatabasesBIOMDB.asp) curated by N. Blau, Beat Thöny
  13. Thony and Blau (2006) Hum Mutat 27:870-878
  14. Leuzzi et al., (2010) Clin Genet 77:249-257
PYGM Gene Sequencing

Forms and Documents

Test Details

PYGM
  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier Testing
  • Capillary Sequencing

Ordering

649
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81406x1
No
Yes
  • 271 Disorders of carbohydrate transport and metabolism Excludes: abnormality of secretion of glucagon (251.4) diabetes mellitus (249.0-249.9, 250.0-250.9) hypoglycemia NOS (251.2) mucopolysaccharidosis (277.5)
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Quinlivan et al, (2010) J Neurol Neuosurg Psychiatry 81:1182-1188.
  2. Vladutiu (2008) Curr Opion Rheumatol 20:648-655.
  3. Haller (2002) Arch Neurol 57:923-924.
  4. Deschauer et al, (2007) J Neurol 254: 797-802.
  5. Martin et al, (2001) Ann Neurol 50:574-581
  6. Andreu et al, (2007) Act Myologica XXVI:53-57.
QDPR Gene Sequencing

Forms and Documents

Test Details

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

Ordering

381
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 270.1 Phenylketonuria [PKU], Hyperphenylalaninemia
* For price inquiries please email zebras@genedx.com

References

  1. Kalkanoglu et al., (2001) Prenat Diagn 21:868-870
  2. Farrugia et al., (2007) Mol Genet Metab 90:277-283
  3. Dianzani et al., (1998) Hum Mutat 12:267-273
  4. Romstad et al., (2000) Hum Genet 107:546-553
  5. Smooker et al., (1999) Hum Mutat 13(6):503-4
  6. BIOMDB: Database of Mutations Causing Tetrahydrobiopterin Deficiencies (database online)
Sanfilippo/MPSIII Sequencing Panel

Forms and Documents

Test Details

GNS, HGSNAT, NAGLU, SGSH
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

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

Billing

81479x1
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.
SGSH Gene Sequencing

Forms and Documents

Test Details

SGSH
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancy
  • Capillary Sequencing

Ordering

591
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
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. Hrebicek, M. et al. (2006) Am J of Hum Genet 79:807-819.
  2. Beesley, C. et al. (1998) J Med Genet 35:910-914.
  3. Weber, B. et al. (1999) Eur J of Hum Genet 7:34-44.
  4. Bunge, S. et al. (1999) J Med Genet 36:28-31.
  5. Valstar, M. et al., (2010) J Inher Met Dis 33 :759-767.
  6. Weber, B. et al. (1997) Hum Mol Gen 6:1573-1579.
  7. Mok A. et al., (2003) Genomics 81:1-5.
  8. Meyer, A. et al. (2008) Hum Mut 29 :770-775.
  9. Feldhammer, M. et al. (2009) Hum Mut 30:918-925.
  10. Coutinho M. et al. (2008) Clin Genet 74:194-195.
  11. Valstar M. et al., (2010) Hum Mutat 31:E1348-1360.
SLC17A5 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

SLC17A5
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing
  • Deletion/Duplication Analysis

Ordering

605
4-5 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)
* For price inquiries please email zebras@genedx.com

References

  1. Adams, D. and Gahl, W. (Updated [July 3, 2008]) Free Sialic Acid Storage Disorders. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.gen
  2. Landau et al., (2004) Mol Genet Metab 82 :167- 172.
  3. Aula et al., (2000) Am J Hum Genet 67 :832-840.
  4. Froissart et al., (2005) J Med Genet 42 :829-836.
SLC22A5 Gene Sequencing

Forms and Documents

Test Details

SLC22A5
  • Confirmation of biochemical diagnosis
  • To confirm maternal PCD
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

365
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.81 Primary carnitine deficiency
* For price inquiries please email zebras@genedx.com

References

  1. Schimmenti et al., (2007) Mol Genet Metab 90:441-445
  2. Amat di San Filippo et al., (2006) Hum Mutat 27(6):513-523
  3. Lamhonwah et al., (2002) Am J Med Genet 111:271-284
  4. Wang et al., (2001) Genet Med 3(6):387-392
  5. Wang et al., (2000) Hum Mutat 16:401-407
  6. Li et al., (2010) Hum Mutat 31:E1632-51
  7. Tein et al., (1990) Ped Res 28:247-255
  8. Waber et al.,(1982) J Ped 101:700-705
  9. Treem et al., (1988) NEJM 319:1331-1336
SLC25A13 Gene Sequencing

Forms and Documents

Test Details

SLC25A13
  • Confirmation of biochemical diagnosis
  • Confirmation of clinical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

500
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Yasuda et al., (2000) Hum Genet 107:537-545.
  2. Lu et al., (2005) J Hum Genet 50:338-346.
  3. Tabata et al., (2008) J Hum Genet 53:534-545.
  4. Kobayashi et al., (1999) Nat Genet 22:159-163.
  5. Ko et al., (2007) Int J Mol Med 20:809-815.
  6. Yamaguchi et al., (2002) Hum Mutat 19:122-130.
  7. Kobayashi, K. (Updated [July 2, 2008]) Citrin Deficiency In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2010. Available at http://www.genetests.org.
SLC25A20 Gene Sequencing

Forms and Documents

Test Details

SLC25A20
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

429
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81405x1
No
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)
* For price inquiries please email zebras@genedx.com

References

  1. Korman et al., (2006) Mol Genet Metab 89:332-338
  2. Iacobazzi et al., (2004) Hum Mutat 24:312-320
  3. Costa et al., (2003) Mol Genet Metab 78 :68-73
SMPD1 Gene Sequencing

Forms and Documents

Test Details

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

Ordering

2631
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81330x1
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)
SUMF1 Gene Sequencing

Forms and Documents

Test Details

SUMF1
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

611
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 757.1 Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 277.5 Mucopolysaccharidosis Gargoylism Hunter's syndrome Hurler's syndrome Lipochondrodystrophy Maroteaux-Lamy syndrome Morquio-Brailsford disease Osteochondrodystrophy Sanfilippo's syndrome Scheie's syndrome
  • 330.1 Tay-Sachs disease hexosaminidase A deficiency; Cerebral lipidoses
* For price inquiries please email zebras@genedx.com

References

  1. Schlotawa et al., (2008) Hum Mutat 29:205.
  2. Cosma et al., (2004) Hum Mutat 23:576-581.
  3. Artigalas et al., (2009) Metab Brain Dis 24:493-500.
TAT Gene Sequencing

Forms and Documents

Test Details

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

Ordering

494
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
  • 270.2 Other disturbances of aromatic amino-acid metabolism, Albinism, Alkaptonuria, Alkaptonuric ochronosis, Disturbances of metabolism of tyrosine and tryptophan, Homogentisic acid defects, Hydroxykynureninuria Hypertyrosinemia, Indicanuria, Kynureninase defects, Oasthouse urine disease, Ochronosis, Tyrosinosis, Tyrosinuria, Waardenburg syndrome
* For price inquiries please email zebras@genedx.com

References

  1. Natt et al., (1987) Hum Genet 77:352-358.
  2. Natt et al., (1992) Proc Natl Acad Sci 89:9297-9301.
  3. Huhn et al., (1998) Hum Genet 102:305-313.
  4. Maydan et al., (2006) J Inherit Metab Dis 29:620-626.
  5. Charfeddine et al., (2006) Mol Genet Metab 88:184-191.
TPP1 (CLN2) Gene Sequencing

Forms and Documents

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.

Metabolic/Mitochondrial Disorders Variant Testing Program (VTP)

Laboratories classify genetic changes as variants of uncertain significance (VUS) when there is incomplete or conflicting information about the health consequences of the variant. In some cases, testing family members for the presence or absence of a VUS may contribute to a better understanding of the variant and may be one piece of evidence leading to eventual reclassification of a VUS as a pathogenic, likely pathogenic, benign, or likely benign variant. For such cases, GeneDx has established a Variant Testing Program (VTP).

How do I determine if a variant is eligible for the Metabolic/Mitochondrial Disorders VTP?

GeneDx considers requests for the Metabolic/Mitochondrial Disorders VTP for any individual found to have a VUS identified in a proband by metabolic or mitochondrial genetic testing at our laboratory. These studies will be performed at no additional charge for select and pre-approved family members who meet certain criteria and for whom appropriate clinical information is provided. Genetic testing for other variants or additional family members, including predictive testing, is not included in our VTP and can be ordered separately for charge. GeneDx will make the final determinations for VTP in its sole discretion.

Application process for the Metabolic/Mitochondrial Disorders VTP:

  • Please fax a detailed pedigree and any relevant clinical information/evaluations to the GeneDx metabolic/mitochondrial genetic counselors at 301-519-2892, email genedx@genedx.com, or call 301-519-2100 and ask to speak with a genetic counselor. Please be sure to indicate that you are submitting the information for VTP consideration, and include the name and/or GeneDx accession number of the proband.
  • Our team will review the case and will determine if there are informative family members appropriate for evaluation through the VTP. Cases are typically reviewed within a few days, but please allow up to 3 weeks after receipt of the application for a reply.
  • A member of our team will contact the ordering provider or genetic counselor after the case has been reviewed to let him/her know if the family has been accepted in the VTP. If we are extending an offer for family member variant testing, we will discuss logistics of sample submission at that time.

Note that testing through the VTP only includes testing for the familial variant(s) in question. More thorough testing that may have been performed on the original patient is not provided through the VTP.

Reasons why family members may not be accepted into the Metabolic/Mitochondrial Disorders VTP:

  • There are no informative family members available for testing.
  • In certain circumstances, it may be more informative to perform more comprehensive diagnostic genetic testing in affected family member(s) instead of targeted testing of one or more unaffected relatives for a VUS.
  • The variant is in a gene that does not correspond well with the clinical phenotype reported in the proband or the medical history in the family.
  • Variant studies for the evaluation of a single VUS in a gene associated with an autosomal recessive disorder are rarely informative. Therefore, these requests are typically denied.

  • Variant studies for the evaluation of a homozygous VUS identified in gene associated with autosomal recessive disorder are also often not informative and may be denied.
  • Segregation studies involving genes that may cause either an autosomal dominant or an autosomal recessive disorder are also more challenging than studies involving highly penetrant autosomal dominant genes; therefore, VTP studies are less likely to be approved for such genes.

Revising the classification of variants of uncertain significance takes a great deal of data and information from multiple sources. Therefore, there is no guarantee that participation in the VTP will lead to an updated classification of a VUS based on information from a single family, although cumulative data collected from multiple families over time may lead to a more definitive classification for a variant.

For more information please contact:
The GeneDx Metabolic/Mitochondrial Genetic Counselors at 301-519-2100.