Faktor XII-Defizienz (F12)
Factor XII deficiency (F12)
General description
Coagulation factor XII is involved in the intrinsic cascade of blood coagulation. Two different mutations have been described in the factor XII gene that trigger FXII deficiency. FXII deficiency manifests as prolonged clotting time in the partial thromboplastin time (PTT) screening test. Affected cats have not experienced abnormal bleeding.
Order details
| Test number | 8806 |
| Abbreviation | F12 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | hematologic |
| Inheritance | autosomal recessive |
| Causality | associated |
| Gene | F12 |
| Mutation | DEL |
| Literature | OMIA:000364-9685 |
Detailed description
Coagulation factor XII is involved in the intrinsic cascade of blood coagulation. Two different variants have been described in the factor XII gene that trigger FXII deficiency. Homozygous affected cats have a strongly reduced FXII activity, while heterozygous affected cats only show a moderately reduced FXII activity. If both variants are present in heterozygous state, no functional FXII protein will be built. The cat has to be considered as homozygous affected. FXII deficiency manifests as prolonged clotting time in the partial thromboplastin time (PTT) screening test. Affected cats have not experienced abnormal bleeding.
