Fibrinogen workup performed in the investigation of a 47-year-old woman with suspected fibrinogen disorder: case 1
| First-step laboratory diagnosis . | Results . | Reference range . |
|---|---|---|
| PT, s | 13.5 | 9.5-12.7 |
| aPTT, s | 33 | 22-30 |
| Fibrinogen activity, g/L | 0.7 | 1.8-4.0 |
| Second-step laboratory diagnosis | ||
| Fibrinogen antigen, g/L | 3.4 | 1.8-4.0 |
| Thrombin time, s | 46 | 16-21 |
| Reptilase time, s | >60 | 16.21 |
| FGA, FGB, and FGG genotype | FGA c.103C>T p.Arg35His* | Causative hotspot mutation |
| First-step laboratory diagnosis . | Results . | Reference range . |
|---|---|---|
| PT, s | 13.5 | 9.5-12.7 |
| aPTT, s | 33 | 22-30 |
| Fibrinogen activity, g/L | 0.7 | 1.8-4.0 |
| Second-step laboratory diagnosis | ||
| Fibrinogen antigen, g/L | 3.4 | 1.8-4.0 |
| Thrombin time, s | 46 | 16-21 |
| Reptilase time, s | >60 | 16.21 |
| FGA, FGB, and FGG genotype | FGA c.103C>T p.Arg35His* | Causative hotspot mutation |
Nascent protein with the signaling peptide.