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CoagGenex Clotting Genetic Panel

Justification

The CoagGenex Clotting Genetic Panel is an amplicon-based, next-generation DNA sequencing assay targeting the exons of 29 relevant genes[protein S (PROS1), protein C (PROC), antithrombin III (SERPINC1), factor VIII (F8), factor V (F5), factor II (F2), MTHFR, fibrinogen (FGA), plasminogen (PLG) and plasminogen activator inhibitor, type I (formerly called PAI1, now SERPINE1), ADAMTS13, CBS, FGB, FGG, F11, F12, F13A, F13B, F7, F9, HRG, MAST2, PLAT, PLG, PROCR, SERPIND1, STAB2, TFPI, THBD, and VWF)]. This panel also detects the CYP2C9 (*2, *3, *5, *6, *8, *11), CYP2C cluster rs12777823, and VKORC1 (*2) variants affecting warfarin sensitivity, which is an anticoagulant frequently used to treat or prevent venous thromboembolism (VTE). Genetic testing may be helpful for confirming diagnosis, estimating risk of recurrence and asymptomatic diagnosis in affected families.

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
Frozen (-20C): 2 weeks
Frozen (-80C): 6 months
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 Hypercoagulability Genetic Panel, Hypercoag Genetic Panel, Inherited Thrombophilia
DESCRIPTION Ten exons plus 5bp of the flanking introns from ten genes associated with hereditary thrombophilia are sequenced and analyzed: protein S (PROS1), protein C (PROC), antithrombin III (SERPINC1), factor VIII (F8), factor V (F5), factor II (F2), MTHFR, fibrinogen (FGA), plasminogen (PLG) and plasminogen activator inhibitor, type I (formerly called PAI1, now SERPINE1). Common risk polymorphisms (e.g., factor V Leiden, prothrombin G20210A, are included). 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

Dautaj A, et al. Hereditary thrombophilia. Acta Biomed. 2019 Sep 30;90(10-S):44-46.
SAMPLE REPORT Upon request

Test Codes

ORDER CODE P1227
CPT CODE 81406, 81407, 81479x27
LOINC CODE see individual genes