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ABHD5 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ABHD5
Disorders:
Clinical Utility:
  • Confirmation of clinical diagnosis
  • To distinguish CDS from other forms of NCIE
  • Recurrence risk calculation
  • Prenatal diagnosis for couples with known mutation(s)
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
114
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Emre et al. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. European Journal of Medical Genetics. 2010 March; 53:141-144
  2. Schweiger et al. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab 2009 297:E289-E296
  3. Bruno et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem Biophys Res Commun. 2008 May 16;369(4):1125-8
  4. Akiyama et al. (2008) CGI-58 Is an {alpha}/β-Hydrolase within Lipid Transporting Lamellar Granules of Differentiated Keratinocytes. Am J Pathol 173:1349-1360
  5. Akiyama et al. (2003) Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Chanarin-Dorfman syndrome. J Invest Dermatol. 121:1029-1034
  6. Lefevre et al (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69:1002-1012

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