Adenosine Deaminase Deficiency

ADA deficiency is associated with an autosomal recessive form of severe combined immune deficiency (SCID) in which B, T, and NK cells are deficient. Bacterial, viral and fungal infections are common and often life-threatening, but there is a wide range of severity and age of onset. Diminished red cell adenosine deaminase activity is diagnostic, correlating with deoxyadenosine toxicity in lymphocytes. Enzyme replacement, bone marrow/stem cell transplantation, and gene therapy have been used successfully for treatment.

Tests Available

Forms and Documents

Test Details

ADA
  • 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
  • Capillary Sequencing

Ordering

352
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Swabs

Billing

81479x1
No
Yes
  • 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 Yor
  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.