Test Detail

Factor VII (FVII) deficiency in the Papillon

Hematológico · Dog

Factor VII deficiency is an inherited coagulopathy of the extrinsic coagulation pathway. In the Papillon and the Phalène it behaves as a mild to moderate disorder, often detected as an incidental finding in a blood panel with prolonged prothrombin time (PT), and rarely with severe bleeding. The DNA test reports status and allows breeding to be planned. It is complementary to, not a substitute for, clinical and coagulation examination.
Inheritance patternAutosomal recessive (OMIA:000361-9615).
Gene / MutationF7 c.407G>A p.(G136E) (g.60578895G>A); the same variant has been described in more than 20 breeds, including the Papillon (OMIA:000361-9615).
PenetranceVariable and often low: many homozygotes have residual factor VII activity and do not bleed; heterozygotes are usually asymptomatic with intermediate activity. Haemorrhagic expression, when it occurs, is mild to moderate.
Codermpv
Turnaround time10 days
Price52,72 €

Incidence

Applicable breed: Papillon and Phalène. Mild to moderate disorder, often an incidental finding. Limited data on carrier frequency in the breed.

Breeder management

- Genotype breeding dogs before mating.
- Do not mate two carriers: on average, 25% of the litter would be homozygous.
- A carrier can be mated to a clear dog; test the offspring intended for breeding.
- If an affected animal must undergo surgery, plan haemostatic measures with the veterinarian.
- Do not be alarmed by healthy heterozygotes: clinical expression is usually mild.

Specialist notes

Differential diagnosis with other coagulopathies (haemophilia A and B, factor XI deficiency, von Willebrand disease). PT is prolonged; measurement of factor VII activity confirms the deficit and the genetic test establishes status. In affected animals, avoid trauma and review medication that interferes with haemostasis.

References

1. Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. 2006. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies (J Thromb Haemost) (PMID 16961583).
2. OMIA:000361-9615 (Factor VII deficiency, F7, Canis lupus familiaris).

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