X-linked Agammaglobulinemia (XLA): BTK (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of XLA; detect carriers; allow early diagnosis in family members, guiding prophylactic measures
Special Instructions
Not provided.
Limitations
The test does not reliably detect mosaic variants, large deletions, duplications, inversions, and deep intronic variants. It may be affected by allele-dropout and does not conclude whether two heterozygous variants are on the same chromosome. It also may not detect the exact numbers of T/A or microsatellite repeats.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 35295-5 - BTK gene Mut Anl Bld/T
- 35295-5 - BTK gene Mut Anl Bld/T
Result Turnaround Time
24-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | Samples may be stored for brief periods at 4°C. |
Other tests from different labs that may be relevant