Genetic Tests
Fueled by the explosive advancements in biology, genetics, biochemistry, molecular biology and technology we have entered a time of significant advances in the study of genetic diseases in dogs. The completion of the Canine Genome Project will only accelerate our understanding in this area. Key to the practical usage of knowledge in the field of canine genetic diseases is the development and application of DNA-based genetic tests. DNA-based genetic tests identify differences in DNA sequences and are of two different types. The mutation-based test recognizes disease-causing mutations while the linked polymorphism test recognizes DNA differences that are near the disease-causing gene and are used to track both normal and mutant alleles of that gene through pedigrees. An allele is an alternative form of a gene inherited from each parent. There are differences in how these two tests are developed and used but both involve the same basic techniques. The most powerful tool developed in the last 10 years or so is the polymerase chain reaction (PCR). By the use of this tool millions of copies of the same DNA sequence can be produced resulting in amplification and the ability to allow rapid genotyping of marker alleles from minute amounts of genomic DNA. A rough analogy would be to take a swab of an infected ear and grow the organism on an agar plate so the organism can be identified and other tests could be done on the larger sample.
- Mutation-based tests recognize the specific DNA mutation that causes the genetic disease. These tests:
- require knowledge of the specific mutation (which requires that the normal gene sequence is known).
- can be used for carrier detection as well as detection of affected animals.
- may be breed specific, so different tests may be necessary to test for the same disease in different breeds.
- do not require DNA samples from additional members of a pedigree.
- Linked polymorphism tests recognize variations in DNA sequence outside but closely linked to the gene involved in the disease. This type of test:
- requires the identification of a specific polymorphism or variation in DNA sequence near a disease-causing gene and that is linked with that gene. This means that the they are inherited together. DNA from many individuals within pedigrees in which the disease appears is necessary. However it is not necessary to know the exact mutation, or even the disease-causing gene.
- is most accurate for use in families in which the parents of the animal in question are heterozygous (have two different alleles) at the linked marker focus and DNA is available from an affected full sibling of the animal to be tested.
- will be in error a small proportion of the time. An error occurs when there is recombination between the linked polymorphic locus and the disease-causing gene. The closer the two genes are, the less chance for recombination to occur and the smaller the degree of error.
Genetic tests in general should:
- Help us to detect healthy dogs, carriers and affected dogs.
- Allow us to detect healthy dogs that do not carry mutant alleles
- Allow us to prevent mutant alleles from being passed on to the next generation.
How useful and how successful a genetic screening program depends on the following requisites:
- The disease causes enough of a problem to warrant selective breeding.
- The test for heterozygotes (carriers) is accurate and affordable.
- Culling of heterozygotes doesn’t deplete key genetic resources.
- Test and control program should be acceptable to breeders
- Genetic counseling is available to breeders.
- Parent club have rules to insure control is based on test results.
The role of veterinary medicine in genetic screening programs includes:
- providing accurate diagnosis of genetic disease.
- providing laboratory testing for carriers.
- providing genetic counseling.
- promoting ethical practices.
- research.
The role of the breed club includes:
- developing and maintaining open registries to provide results of genetic tests to the
- breed fancy and to the research and scientific community.
- cooperation in genetic test development by providing samples, pedigree
- information and funding for research.
- cooperation in developing genetic disease control programs.
Below is a listing of currently available genetic tests and informative web sites:
- University of Pennsylvania: School of Veterinary Medicine — Department of Clinical Studies — www.vet.upenn.edu/research/centers/penngen/
- Optigen — www.optigen.com
- HealthGene Corp. — www.healthgene.com
- VetGen — www.vetgen.com
Currently Available Genetic Tests
| Disease | Breed(s) | Contact |
| Canine Leukocyte Adhesion Deficiency (CLAD) | Irish Setter, Irish Red & White Setter | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Collie Eye Anomaly (Choroidal Hypoplasia) | Australian Shepherd, Border Collie, Lancashire Heller, Rough Collie, Shetland Sheepdog, Smooth Collie | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Cone Degeneration | German Shorthaired Pointer | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Congenital Stationary Night Blindness (RPE65-CSNB) | Briard | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Copper Toxicosis* | Bedlington Terrier | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
| Cystinuria | Newfoundland, Labrador | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Cystinuria | Newfoundland | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Cystinuria | Newfoundland | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
| Fucosidosis | English Springer Spaniel | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Glanzmann’s Thrombasthenia (Type I) | Great Pyrenees, Otterhound | Auburn University Phone: 344-844-2692 boudrmk@vetmed.auburn.edu |
| Hemophilia B | German Wirehaired Pointers | Comparative Coagulation Section Cornell University Phone: 607-275-0622 WWW: http://www.vet.cornell.edu |
| Mucopolysaccharidosis Type IIIB | Schipperke | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Mucopolysaccharidosis Type VI | Miniature Pinscher, Miniature Schnauzer | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Mucopolysaccharidosis Type VII | German Shepherd Dog, Mixed Breeds | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Myotonia Congenita | Miniature Pinscher | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Myotonia Congenita | Miniature Pinscher | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Narcolepsy | Dachshund, Doberman Pinscher, Labrador Retiever | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Phosphofructokinase (PFK) Deficiency | American Cocker Spaniel, English Springer Spaniel | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Phosphofructokinase (pfk) Deficiency | American Cocker Spaniel, English Springer Spaniel | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
| Phosphofructokinase (pfk) Deficiency | American Cocker Spaniel, English Springer Spaniel, Mixed Breeds | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Progressive Retinal Atrophy (PRA) | Irish Setter** | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: Dominant) | Bullmastiff, English Mastiff | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: Prcd) | American Eskimo Dog, Australian Cattle Dog, Chesapeake Bay Retriever, English Cocker Spaniel, Entelbucher Mountain Dog, Labrador Retriever, Miniature Poodle, Nova Scotia Duck Tolling Retriever, Portuguese Water Dog, Toy Poodle | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: Rcd1) | Irish Setter, Irish Red & White Setter | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: Rcd1a) | Sloughi | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: Rcd3) | Cardigan Welsh Corgi | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: Type A) | Miniature Schnauzer | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Progressive Retinal Atrophy (PRA)(Form: X-Linked) | Samoyed, Siberian Husky | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Pyruvate Kinase Deficiency | Basenji | OptiGen LLC Cornell Business and Technology Park 33 Thornwood Drive, Suite 102 Ithaca, NY 14850 Phone: 607-257-0301 Fax: 607-257-0353 Email: Genetest@optigen.com WWW: http://www.optigen.com/ |
| Pyruvate Kinase Deficiency | American Eskimo Dog, Basenji, Beagle, Chihuahua, Dachshund, West Highland White Terrier | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| Pyruvate Kinase Deficiency | Basenji | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
| Renal Dysplasia* | Lhasa Apso, Shih Tzu, Soft Coated Wheaten Terrier | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
| Severe Combined Immune-Deficiency (SCID) | Basset Hound, Cardigan Welsh Corgi, Pembroke Welsh Corgi | PennGen Laboratories 3850 Spruce Street Philadelphia, PA 19104-6010 Phone: 215-898-3375 Fax: 215-573-2162 Email: penngen@vet.upenn.edu WWW: PenGen Website |
| von Wilebrand’s Disease | Bernese Mountain Dog, Doberman Pinscher, Drentsche Patrijshond, German Pinscher, Kerry Blue Terrier, Manchester Terrier, Papillon, Pembroke Welsh Corgi, Poodle(All Varieties), Scottish Terrier, Shetland Sheepdog | VetGen LLC 3728 Plaza Drive, Suite One Ann Arbor, MI 48108 Phone: 800-483-8436 Fax: 313-669-8441 Email: VetGen@Bizserve.com WWW: http://www.vetgen.com/ |
* linkage test
**The Irish Setter Club of America only recognizes the PRA test done by Optigen, LLC.
