Test Code GNPRS Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies
Ordering Guidance
This test should only be considered if clinical and family history, initial coagulation screens, and/or initial antigen and activity tests suggest a diagnosis of protein S deficiency (see Testing Algorithm).
This test does not measure protein S activity or antigen levels.
-For assessment of free protein S activity, order S_FX / Protein S Activity, Plasma.
-For assessment of plasma free protein S antigen, order PSTF / Protein S Antigen, Plasma.
For patients in whom hereditary protein S deficiency is strongly suspected and the plasma free protein S antigen level is normal, consider testing free protein S activity for detecting type II protein S deficiency, which is very rare. Order S_FX / Protein S Activity, Plasma.
If genetic testing for hereditary blood clotting disorders using a larger panel is desired, a 16-gene comprehensive thrombosis panel is available; order GNTHR / Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies.
Testing for the PROS1 gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the PROS1 gene. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Rare Coagulation Disorder Patient Information is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.
Specimen Required
Specimen Type: Whole blood
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the PROS1 gene associated with thrombophilia due to protein S deficiency, a rare clotting disorder. See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for thrombophilia due to protein S deficiency.
Specimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
28 to 42 daysSpecimen Retention Time
Whole blood: 2 weeks (if available); Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81479