Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

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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