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Ehlers-Danlos Syndrome (Poodle Type), Variant 1

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Test Overview:

Mandatory genetic testing of Poodles intended for breeding for both known TNXB variants (variant 1 and variant 2). Avoid breeding two carriers to prevent affected puppies. Mate carriers only to genetically clear dogs after testing offspring. Preserve genetic diversity while minimizing mutation frequency.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

TNXB

Variant Detected:

chr12:1499124 (canFam3): G/A; chr12:1490385 (canFam3): G/A

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 Recessive

Recommended Screening:

Genetic testing of the TNXB gene will reliably determine if a dog is a genetic Ccrrier of Ehlers-Danlos syndrome.

Research Citation(s):

Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet. 2019 Oct;50(5):546-549. doi: 10.1111/age.12830. [PubMed: 31365140]

Associated Breed(s):

Bernardoodle, Bernedoodle, Bordoodle, Cavoodle, Goldendoodle, Labradoodle , Labradoodle Retrodoodle , Miniature Poodle, Schnoodle, Standard Poodle, Toy Poodle, Whoodle,

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