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Arrhythmogenic Right Ventricular Cardiomyopathy (RESEARCH)

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Test Overview:

Avoid breeding dogs known to be homozygous for the striatin mutation, as they are at highest risk of severe disease and dilated cardiomyopathy. Breeding carrier dogs should be approached with caution; preferentially breed carriers only to genetically clear dogs to reduce disease incidence. Routine genetic testing of all breeding stock in at-risk breeds is strongly recommended. Breed clubs and veterinary geneticists may have specific guidelines on managing ARVC to balance disease control and genetic diversity.

Category:

Cardiovascular - Associated with the heart and blood vessels

Gene:

STRN

Variant Detected:

Nucleotide deletion chr17:29269446-29272662 deletion CATACACA (canFam3) 3’Untranslated region of the STRN gene

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Research Citation(s):

Meurs KM et al. Genome-wide association identifies a deletion in the 30 untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy. (2010), Hum Genet, 128, 315–324.

Associated Breed(s):

Boxer ,

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