301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
SEARCH
X-linked Agammaglobulinemia
Bruton type agammaglobulinemia
BTK (Bruton's agammaglobulinemia tyrosine kinase)
Using genomic DNA obtained from buccal (cheek) swabs or blood (5cc in EDTA), all coding exons (2-19), their intron/exon boundaries, and the regulatory region of intron 1 of the BTK gene are screened by bi-directional sequence analysis. Carrier testing and prenatal diagnosis is available once the mutation in a family has been defined. 90%- 95% of patients with a diagnosis of XLA have a mutation in the BTK gene that can be detected using the methods employed by GeneDx, Inc. Mutations occur throughout the coding sequence of the gene and are of all types, including nonsense, missense, splice-site, deletions and insertions. The majority of mutations cause premature truncation of the protein and loss of protein function. 60-70% of mutations are point mutations, 20-30% of mutations are small deletions or insertions, and 5-10% are gross alterations (gross alterations not detectable by GeneDx current methods). Test sensitivity is expected to be somewhat higher in males than in females. There are other genes besides BTK that are required for normal B-cell development and mutation in these other genes can result in an autosomal recessive disorder that is clinically indistinguishable from XLA.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Bruton, Agammaglobulinemia, Hypogammaglobulinemia, BTK, XLA, B-cell, Infection, Antibody, B-lymphocyte
© 2000 - 2008 GeneDx, Inc. All rights reserved.
