Factor VII Deficiency

View All DNA Tests

Related Terms: Coagulation Factor VII Deficiency, F7, FVII, Hypoproconvertinemia, Proconvertin Deficiency

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Variable

View Sample Collection and Shipping Instructions

Sample Processing

Cost: $75.00

Species and Breeds
Canine - Alaskan Klee Kai
Canine - Beagle
Canine - Scottish Deerhound

Order Test We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical signs become apparent after surgery or trauma, which can happen at almost any age. These clinical signs include excessive bleeding and a failure to heal after a given traumatic event or surgery. Dogs with this disease live full lives with the infusion of FFP after a bleeding event and special care is taken to be ready with blood for transfusion during a surgery in the event of a hemorrhage. Factor VII, also called proconvertin, is an essential element in the coagulation cascade, which is the process by which the body stops bleeding through the formation of clots. Without the ability to form clots, an affected dog may bleed out following tissue trauma, resulting in a premature death.

Potential for full life with treatment

Autosomal recessive

Dependent on the frequency and severity of the bleeding events.

F7 and NM_001048033.1:c.407G>A

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Factor VII Deficiency and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Factor VII Deficiency but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Factor VII Deficiency and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Donner J, Kaukonen M, Anderson H, Möller F, Kyöstilä K, Sankari S, Hytönen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. doi: 10.1371/journal.pone.0161005. PMID: 27525650; PMCID: PMC4985128. Kaae JA, Callan MB, Brooks MB. Hereditary factor VII deficiency in the Alaskan Klee Kai dog. J Vet Intern Med. 2007 Sep-Oct;21(5):976-81. doi: 10.1892/0891-6640(2007)21[976:hfvdit]2.0.co;2. PMID: 17939552. Callan MB, Aljamali MN, Margaritis P, Griot-Wenk ME, Pollak ES, Werner P, Giger U, High KA. A novel missense mutation responsible for factor VII deficiency in research Beagle colonies. J Thromb Haemost. 2006 Dec;4(12):2616-22. doi: 10.1111/j.1538-7836.2006.02203.x. Epub 2006 Sep 8. PMID: 16961583.