Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies
Use
This test is useful for evaluating protein C deficiency in patients with a personal or family history suggestive of hereditary thrombophilia. It confirms a diagnosis of autosomal dominant protein C deficiency through identification of disease-causing alterations in the PROC gene. The test also aids in confirming autosomal recessive severe protein C deficiency if homozygous or compound heterozygous disease-causing variants are identified. It assists in determining the disease-causing alterations in the PROC gene to delineate the underlying molecular defect for protein C deficiency diagnosis, prognosis, and risk assessment based on genotype-phenotype correlations.
Special Instructions
Specimen should arrive within 96 hours of collection. Rare Coagulation Disorder Patient Information is required. Genetic testing should be considered if clinical and family history, initial coagulation screens, and initial protein C activity tests suggest hereditary thrombophilia.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and false-negative or false-positive results may occur. Certain regions may not be effectively evaluated due to sequence complexity. The test is not intended for low levels of mosaicism or to distinguish between somatic and germline variants. The test is not designed for prenatal diagnosis.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 93815-9
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 18771-6
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. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |