Protein C Deficiency via the PROC Gene
Use
This test is designed for individuals with clinical or suspected protein C deficiency. It's specifically tailored for those who exhibit protein C activity levels less than 70%. Additionally, reproductive partners of individuals with a known pathogenic variant in the PROC gene might find this test relevant. It helps confirm the diagnosis and guide appropriate management strategies for affected patients.
Special Instructions
The test can be ordered with a STAT option that provides results faster within 7 to 16 days if needed urgently. The standard processing time is 2 to 3 weeks. Ordering this test requires compliance with New York state regulations if collected there.
Limitations
This test does not cover all genetic variations and should not be used as the sole criterion for clinical diagnosis. False negatives may occur if the variant is located in regions not covered by the test, or it is in a form that is difficult to detect with the NGS technology used. Also, the presence of CNVs may complicate the analysis.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided