Peroxisomal Disorders

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)

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