Lysosomal Storage 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

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)