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Dysfibrinogenemia Genetic Panel


Mutations in FGA, FGB, or FGG can cause dysfibrinogenemia or afibrinogenemia. Depending on the effect of the mutation, there may be a bleeding, thrombotic, or asymptomatic phenotype. This test may help confirm the diagnosis.

STAT: < 48 hours (M-F)


Draw Tube: Purple Top

Sample Type: EDTA Whole Blood


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

General Information

STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES Fibrinogen genetic panel, FGA sequencing, FGB sequencing, FGG sequencing, hypodysfibrinogenemia, afibrinogenemia, hereditary fibrinogen Aα-Chain amyloidosis
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of the FGA, FGB, and FGG genes. Additionally, this test was designed to detect the recurrent 11kb deletion in FGA. Sanger sequencing may be used to confirm variants as needed. This test will detect inherited but not acquired dysfibrinogenemia.
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

Neerman-Arbez, M et al. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. Europ. J. Hum. Genet. 7: 897-902, 1999.

SAMPLE REPORT Upon request

Test Codes

CPT CODE 81479x3
LOINC CODE 92992-7