Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

ALDH3A2 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ALDH3A2
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis in a patient with ichthyosis and neurologic symptoms
  • To differentiate between SLS and other causes of congenital ichthyosis
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 277.9: Unspecified disorder of metabolism, Enzymopathy NOS
  • 757.1: Ichthyosis congenita, Congenital ichthyosis, Harlequin fetus, Ichthyosiform erythroderma
  • 277.6: Other deficiencies of circulating enzymes, Hereditary angioedema
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Rizzo and Carney. Sjögren Larsson Syndrome: Diversity of Mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2). Hum Mut 26(1): 1-10, 2005

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