GeneDx :: Tests :: ADA Severe Combined Immunodeficiency, Autosomal Recessive (ADA SCID), Adenosine Deaminase Deficiency

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ADA Severe Combined Immunodeficiency, Autosomal Recessive (ADA SCID)
Adenosine Deaminase Deficiency

ADA (Adenosine Deaminase)

Mutations in several different genes can cause severe combined immune deficiency (SCID). Patients present in infancy with persistent severe viral, bacterial, protozoal or fungal infections, poor wound healing and failure to thrive. T-cell lymphopenia is characteristic of all forms of SCID, but the presence of B cells and NK cells is variable depending on the genes involved. The profile T-B-NK- is associated with SCID caused by adenosine deaminase (ADA) deficiency.

Analysis is performed by bi-directional sequencing of the coding regions and splice sites of the 12 exons of the ADA gene. If sequencing identifies a mutation on only one allele, focused array CGH analysis with exon-level resolution (ExonArrayDx) will be performed to evaluate for a deletion or duplication of one or more exons of this gene. For more details see the linked Information Sheet below.

Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options

ADA Severe Combined Immunodeficiency, Autosomal Recessive (ADA SCID) Adenosine Deaminase Deficiency

ADA Severe Combined Immunodeficiency, Autosomal Recessive (ADA SCID)
Adenosine Deaminase Deficiency