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X-linked Agammaglobulinemia


Genes

BTK

Conditions

  • Bruton type agammaglobulinemia

Clinical Utility

  • Confirmation of clinical diagnosis
  • Distinguish among the various forms of primary immunodeficiency
  • Determination of appropriate treatment, including instituting prophylaxis
  • Carrier testing in female relatives of affected males
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Important Information

 

 

Test Code

154

CPT Codes*

81406x1, 81479x1

ABN Required

No

Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.