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Protein C Gene Sequencing

Justification

The PROC gene encodes protein C, a critical component of the anticoagulation system. PROC mutations can cause inherited thrombophilia.

STAT: < 48 hours (M-F)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY NGS
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES PROC gene sequencing, PC gene sequencing
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of the PROC gene. Sanger sequencing may be used to confirm variants as needed.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING -
REFERENCES

Reitsma PH. Protein C deficiency: summary of the 1995 database update. Nucleic Acids Res. 1996 Jan 1;24(1):157-9.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P3374
CPT CODE 81479
LOINC CODE 93815-9