301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
Immunodeficiency Syndrome with Hyper IgM, Type 2
AICDA
HIGM2 is likely the second most common type of immunodeficiency with hyper-IgM. A study of 115 families with hyper-IgM showed 4/115 (~3.5%) with a detectable AICDA mutation. These cases represented approximately 10% of the families where a CD40LG mutation had already been ruled out. Mutations in the AICDA gene can be suspected in males or females, with or without a family history, with or without consanguinity, especially if mutations in CD40L have been ruled out or if the clinical and laboratory findings do not fit HIGM1. The combined sequencing and exon-level array test performed at GeneDx is designed to detect all known mutation types in AICDA to date including whole gene deletions, as well as any novel partial gene deletions, for a test sensitivity that can be estimated at 98%. For more details see the Information Sheet linked below.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
© 2000 - 2012 GeneDx. All rights reserved.
