Test Directory
Dysfibrinogenemia Genetic Panel
Justification
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 | 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 |
| ASSOCIATED TESTING | - |
| REFERENCES | 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 |
| NEW YORK STATE APPROVED | No |
Test Codes
| ORDER CODE | P1208 |
| CPT CODE | 81479x3 |
| LOINC CODE | 92992-7 |