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Test Code AIRE SEQ AIRE Gene Sequencing

Important Note

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

Clinical System Name

AIRE Gene Sequencing

Synonyms

Autoimmune Polyglandular Syndrome Type 1

IRE1, APECED, APS1, APSI, PGA1

Description

Sequencing of this gene is to rule out the rare autoimmune disease, APECED.

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 ok

 

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:  The 14 exons of the AIRE 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

81406x1      (updated 2/16/2015 by sstasi)