Test Detail

Factor XII deficiency (F12) — domestic cat and several breeds

Hematológico · Cat

Congenital deficiency of coagulation factor XII (Hageman factor) due to variants in the F12 gene. It is common in domestic cats and in several breeds and, in most cases, is asymptomatic without abnormal bleeding; it is detected in coagulation tests as a prolonged activated partial thromboplastin time (aPTT). Autosomal inheritance (recessive for very low residual activity). The test is complementary to the coagulation profile.
Inheritance patternAutosomal; very low residual activity in homozygotes and moderate in heterozygotes.
Gene / MutationF12: c.1631G>C (p.Gly544Ala, exon 13) and c.1321delC (deletion, exon 11), among other variants.
PenetranceResidual FXII activity relates to the number and type of mutations; homozygotes have severely reduced activity and heterozygotes moderate. Generally asymptomatic.
Codejbvn
Turnaround time7 days
Price36,05 €

Incidence

Common in domestic cats and present in several breeds; geographical bias towards the Midwest of the United States in the published series. Frequencies: limited data.

Breeder management

- FXII deficiency does not usually cause abnormal bleeding: it is not in itself a reason to exclude from breeding\n- Interpret the result together with the coagulation profile (aPTT)\n- With an isolated aPTT prolongation, consider FXII deficiency before assuming a bleeding risk\n- Communicate the finding to the veterinarian to avoid unnecessary tests

Specialist notes

Factor XII deficiency is a laboratory finding (prolonged aPTT) that in most cats has no haemorrhagic relevance; it must be differentiated from other coagulopathies (haemophilias, factor XI deficiency, von Willebrand disease). Complementary: measurement of FXII activity and coagulation profile.

References

1. Maruyama H et al. 2019, la deficiencia de factor XII es común en gatos domésticos y se asocia a dos mutaciones de alta frecuencia de F12 (PMID 31022435)
2. Maruyama H et al. 2017, nueva mutación missense de F12 en una camada de gatos con deficiencia de factor XII (PMID 28392508)

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