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Test Code IL10R Known IL10RA/ IL10RB Known Mutation

Important Note

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

Clinical System Name

IL10RA/ IL10RB Known Mutation

Synonyms

IL10R, CD210, CD210a, CDW210A, HIL-10R, IL-10R1, CDW210B, CRF2-4, CRFB4, D21S58, D21S66, IL-10R2

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 IL10R Gene Sequencing

 

 

IL10RA and IL10RB genes encode the receptors for interleukin 10. Both receptors are structurally related to interferon receptors. These have been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibit the synthesis of proinflammatory cytokines. These receptors are reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway

 

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 6-8 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: PCR + Sequencing

 

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

 

 

 

 

CPT Codes

81479