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Test Code BTK SEQ BTK Gene Sequencing

Important Note

Test availability is limited to Seattle Children’s Hospital and University of Washington patients.

Clinical System Name

BTK Gene Sequencing

Synonyms

BTK; Bruton tyrosine Kinase; AT; ATK; BPK; XLA; IMD1; AGMX1; PSCTK1

Description

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes and plasma cells, and as a consequence failure of Ig heavy chain rearrangement

Sample Requirements

Specimen: Whole blood

Container(s): Dark Green/Sodium Heparin, Lavender/EDTA

Preferred Vol: 5 mL

Minimum Vol: 3 mL

 

Specimen: Extracted DNA

Minimum: 5µg

Note: DNA concentration minimum 100 µg/mL; 260/280 ratio 1.70-2.00

  

Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Clotting

Spin: No

Aliquot: No

Temp: Room temperature

Storage location: Molecular Genetics Box in CPA refrigerator#2

 

Off-site collection: Refrigerate blood samples until ready to ship. Transport all sample types at room temp via overnight shipping

Stability

 

Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen 5 years

 

Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.

Availability

 

STAT Performed TAT
Contact lab Monday - Friday 8-10 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department: Molecular Genetics Laboratory

 

Lab Client Services: 206-987-2617,labclientservices@seattlechildrens.org

Lab Genetic Counselor: LabGC@seattlechildrens.org

 

Reference Range

Interpretive Report Provided
 

Methodology

Method:  The 18 exons of the BTK gene, including exon/intron boundaries, were amplified from genomic DNA by PCR and sequenced bidirectionally using dye-terminator chemistry.

 

Limitations: Mutations in the promoter region, large deletions, large duplications, or rare recombinant mutations may not be detected by this method.

CPT Codes

81406