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Factor XI Deficiency

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Test Overview:

Genetic screening of breeding candidates in predisposed breeds. Avoid breeding two carriers to prevent affected offspring. Breed carriers only to clear dogs, and screen offspring before breeding. Preserve breed diversity while lowering disease incidence.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

F11

Variant Detected:

chr16:44477343-44477344 (canFam3): 90 bp insertion; chr16:44477344-44477353 (canFam3): 10 bp duplication (dup GCACAAAGCT)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the F11 gene will reliably determine if a dog is a genetic carrier of factor XI deficiency.

Research Citation(s):

Knowler C, Giger U, Dodds WJ, Brooks M. Factor XI deficiency in Kerry Blue Terriers. J Am Vet Med Assoc. 1994 Dec 1;205(11):1557-61. [PubMed: 7730123] Tcherneva E, Giger U. Molecular Base Of Coagulation Factor XI Deficiency In Kerry Blue Terrier. Bulg. J. Vet. Med., 10, No 4, 247-255. [Not in PubMed]

Associated Breed(s):

Kerry Blue Terrier, Mixed Breed,

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