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Cystinuria Test

For: Newfoundlands

Please note cheek swabs are not accepted for this test.

Cystinuria is an autosomal recessive, inherited disease that affects many breeds. It is especially severe in Newfoundlands due to formation of crystals and stones of the amino acid cystine that can obstruct the urinary tract. In this disease, cystine is not re-absorbed by the kidney and therefore high concentrations can accumulate and precipitate in the urine.

Newfoundlands inherit this disease in an autosomal recessive fashion, meaning that both parents of an affected dog were themselves affected or carriers of the disease. Each parent passed one mutant disease gene to the affected offspring. The gene and the mutation responsible in Newfoundlands are known. Based on this information, a DNA-based genetic test is available that can identify a dog as normal/clear, carrier or affected. This is essential information for controlling the disease in the breed and in kennels where tight line breeding reveals the mutation in that line.

Expected results of breeding strategies using OptiGen mutation tests for inherited recessive diseases
Parent 1
Genotype
Parent 2     Genotype
Normal Carrier Affected
Normal All = Normal 1/2 = Normal
1/2 = Carriers
All = Carriers
Carrier 1/2 = Normal
1/2 = Carriers
1/4 = Normal
1/2 = Carriers
1/4 = Affected
1/2 = Carriers
1/2 = Affected
Affected All = Carriers 1/2 = Carriers
1/2 = Affected
All = Affected
For information on recessive genetic diseases and the expected results for various breeding strategies, please go to the OptiGen “Glossary” link and read about “autosome” and “recessive”. The “recessive” table shows the expected results from breeding dogs of each genetic status. It is important never to breed two carrier dogs, because on average 25% of the pups could be affected. One parent should always be clear/normal for the disease.

Please follow the instructions at the link "Ship Sample" and submit the information at "Request Test". The cost of the cystinuria test for Newfoundlands is $80 per test.

Reference:

Henthorn, PS et al. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Human Genetics: 107:295-303, 2000.

For more information on this breed and the disease, go to: Newfoundland Dog Club.


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Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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