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Test Code SAP Known SAP (SH2D1A) Known Mutation

Important Note

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

Clinical System Name

SAP (SH2D1A) Known Mutation

Synonyms

LYP; SAP; XLP; DSHP; EBVS; IMD5; XLPD; MTCP1; XLPD1; SAP/SH2D1A

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 SAP Gene Sequencing

 

 

 

This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma.

 

 

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

 

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