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Test Code FOXP3 SEQ FOXP3 Gene Sequencing

Important Note

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

Clinical System Name

FOXP3 Gene Sequencing

Synonyms

Immune dysregulation

Polyendocrinopathy

Enteropathy

X-linked Syndrome

IPEX

IPEX-like

Description

FOXP3 Gene Sequencing

 

Testing is appropriate for: Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome due to a suspected FOXP3 mutation.

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 will be provided

Methodology

Method:  Bidirectional sequencing

 

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

CPT Codes

81479

Clinical Utility

FOXP3 Gene Sequencing is appropriate for: Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome due to a suspected FOXP3 mutation.