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Test Code JAK3 Known JAK3 Known Mutation

Important Note

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

Clinical System Name

JAK3 Known Mutation

Synonyms

JAK3; Janus kinase 3; JAKL; LJAK; JAK-3; L-JAK

Description

This test involves targeted analysis for mutations previously identified through clinical testing of a family member or  research testing of the individual.  It can be used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known. For full gene sequencing please see JAK3 Gene Sequencing

 

 

This gene encodes a member of the Janus kinase family of tyrosine kinases. It is involved in intracellular signal transduction via a cytokine receptor. It is mainly found in immune cells, sending signals once phosphorylated by interleukin receptors. JAK3 deficiency is associated with autosomal SCID.

 

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, amniocytes, chorionic villus sampling (CVS)

Container(s): T-25 flasks

Preferred Vol: 2 flasks

 

Note: Direct testing on amniocentesis and chorionic villus sampling (CVS) is not performed; samples must be cultured by external lab.

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 6-8 weeks

 

Performing Laboratory

Seattle Children's Laboratory

Department

Department: Molecular Genetics Laboratory

Phone: 206-987-3872

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

Lab Genetic Counselor: LabGC@seattlechildrens.org

Reference Range

Interpretive report will be provided

Methodology

Method: PCR + Sequencing

 

Limitations: This test is for targeted known mutation analysis only.  Mutations must be known.

 

 

 

 

CPT Codes

81479

Special Instructions

Links to:  Immunology Diagnostic Laboratory

Requisition

IDL Requisition