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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:
84311x1, 88271x10, 88291x1
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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