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.

ADA Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ADA
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis by testing the affected child
  • Confirmation of the clinical diagnosis by testing the parents of an affected child
  • Differential diagnosis from other types of SCID, for therapy decisions
  • Carrier testing in siblings or other relatives
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
352
Turnaround Time:
7-8 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:
  • 279.2: Combined immunity deficiency
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Hershfield MS, Mitchell BS, 1995, Immunodeficiency caused by adensosine deaminase deficiency and purine nucleoside phosphorylase deficiency In: Scriver CR et al (ed) The Metabolic and Molecular Bases of Inherited Disease, 7th edition. McGraw Hill, New York, p 1725-1768.
  2. Hirschhorn R, et al, 1992, Novel deletion and a new missense mutation (Glu217Lys) a the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine-deaminase severe combined immunodeficiency. J Immunol 149, 3107.
  3. Berkvens, TM, et al, 1987, Severe combined immune deficiency due to a homozygous 3.2 kb deletion spanning the promoter and first exon of the adenosine deamninase gene. NAR 15:9365.

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