Invitae Protein S Deficiency Test
Use
The Invitae Protein S Deficiency Test analyzes the gene associated with protein S deficiency. Protein S deficiency is characterized by protein S deficiency on lab testing, recurrent venous thrombosis, and in some cases, purpura fulminans. Heterozygous adulthood with reduced protein S activity have a 30-fold increased risk to develop a venous thromboembolism (VTE); however, penetrance is incomplete (30% by age 60 years). Individuals with biallelic pathogenic variants may manifest purpura fulminans.
Special Instructions
For consultation about test specifics or ordering information, client services are available to answer any queries.
Limitations
This test achieves >99% analytical sensitivity and specificity for SNVs, indels 15bp) may have reduced sensitivity. Detection of structural rearrangements and variants in complex sequence architecture (e.g., STRs, segmental duplications) may not be achieved. Some variant details such as mosaicism and phasing may not be completely resolved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)