Invitae Protein C Deficiency Test
Use
The Invitae Protein C Deficiency Test analyzes the gene associated with protein C deficiency. Protein C deficiency is characterized by laboratory-confirmed low protein C levels, recurrent venous thrombosis, and can present as purpura fulminans in severe cases. The test is designed to identify pathogenic variants within the PROC gene, which is the primary gene associated with this condition.
Special Instructions
Turnaround time is generally 10–21 calendar days (averaging 14 days). Alternate specimen collection methods like saliva, buccal swab, and gDNA are also accepted, alongside the preferred whole blood sample. Testing is conducted in a CAP-accredited and CLIA-certified lab.
Limitations
The test primarily analyzes clinically significant regions of PROC, including coding exons and nearby intronic sequences. Non-coding regions, mosaicism, and structural variants like inversions or translocations may not be detected. Certain exon-level deletions or duplications might not be analyzed due to sequencing properties. Complete details of the assay's coverage limitations are provided in the test definition on the website.
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)