Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies
Use
This test is used to evaluate protein S deficiency in patients with a personal or family history suggestive of hereditary thrombophilia. It confirms a diagnosis of autosomal dominant or autosomal recessive protein S deficiency by identifying disease-causing alterations in the PROS1 gene. Additionally, it is used for determining disease-causing alterations within the PROS1 gene to delineate the underlying molecular defect, assessing prognosis and risk based on genotype-phenotype correlations, and ascertaining the variant status of family members for clinical management and genetic counseling.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants. False negatives or positives can occur and certain regions may not be effectively evaluated due to technical limitations, such as high GC content or repetitive sequences. This test may not detect low levels of mosaicism or differentiate between somatic and germline variants. Variants classified as benign or likely benign are not reported.
New York Approved
Methodology
NGS
Biomarkers
PROS1
Gene
LOINC Codes
- 92994-3 - PROS1 gene Full Mut Anl Bld/T Seq
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 59465-5 - Path Rev
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or Yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |