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 firstname.lastname@example.org.
ADA Gene Sequencing
FORMS AND DOCUMENTS
- 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
- Test Code:
- Turnaround Time:
- 7-8 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- Alternative Specimen:
- Oral Rinse (30-40 mL), Dried Blood Spots
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 279.2: Combined immunity deficiency
- 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.
- 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.
- 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.