Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

ABHD5 Del/Dup



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:
Exon Array CGH


Test Code:
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube


CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
* For price inquiries please email


  1. 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
  2. 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
  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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