In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015. We will resume our normal schedule on Saturday, November 28, 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, Buccal Brushes
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy * For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
- ICD-9 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.