Genetic Testing Information

[Bile Acids]   [CERF/Eye Exams]   [CMO]   [Globoid Cell Leukodystrophy]   [Kidney Ultrasounds]  

Bile Acids

Purpose: to test for hepatic insufficiency or portosystemic shunts

Specimen: 1 ml serum or heparinized plasma (pre and post)

Preparation instructions:

  • Fast of 12 hours prior to drawing pre-sample
  • Feed a small fatty meal and draw post sample 2 hours later. Label Tubes appropriately.
  • Results will mailed to you when they become available. For interpretation of results, please contact your primary doctor.


CERF/Eye Exams

Purpose: to screen the health of eyes and specifically looking for Ocular Melanosis

You will need to have date of birth, AKC registration, AKC name to fill out required paperwork. You will receive a copy for your records.

Dr. Nancy Bromberg will directly inform you on her assessment of your dog's eye health. If there is a problem with your pet's eyes, you may be asked to schedule a regular appointment with her to discussed further.

Dr. Simon Peterson-Jones(conducting study on Ocular Melanosis in Cairns) is wanting DNA samples of elder Cairns(age 8 years and older) that have normal eyes . This can be done by blood sample or cheek swab.

Craniomandibular Osteopathy (CMO) Test

Craniomandibular Osteopathy (CMO) is a non-neoplastic (non-cancerous), proliferating disease in dogs causing extensive developmental changes in the bones of the skull and jaw. Symptoms include firm swelling of the jaw, drooling, pain, and difficulty eating. This usually occurs when the dogs are from 4 to 7 months old. The jaw is bilaterally thickened and several bones become so large and tender that the mouth cannot be fully opened. The tenderness of the affected jaw is associated with intermittent fever of 3 or 4 days duration. This tenderness and fever may recur every 2 to 4 weeks during the bone proliferation phase. Radiography is the best method for diagnosing CMO. Treatment is symptomatic. Most animals can be made comfortable using corticosteroids. However, treatment does not result in cure. Although the primary disease process does not seem to cause death, in some cases euthanasia has been performed because of severe pain and malnutrition resulting from the inability to eat.

CMO mutation:
Recently, a single causal DNA mutation for CMO has been identified by researchers at the Institute of Genetics, Vetsuisse faculty, University of Bern, Switzerland, and the Department of Veterinary Biosciences and Research Programs Unit, Molecular Medicine, University of Helsinki and Folkh'lsan Research Center, Finland. The mutation is highly associated with CMO in Cairn Terriers, Scottish Terriers, and West Highland White Terriers. In this study, about 85% of the CMO affected dogs had two copies of the mutation, 10% had a single copy of the mutation, and 5% of CMO diagnosed dogs did not carry the mutation. The development of the CMO disease is obviously dependent on the genetic status of a dog for the CMO mutation, but is also influenced by other unknown genetic and/or environmental factors. The mode of inheritance of the CMO mutation is best described as autosomal dominant with incomplete penetrance, meaning that dogs of both sexes that are homozygous mutant (with two copies of the mutation) have a comparably higher risk to develop CMO. Dogs heterozygous for the mutation (one copy of the mutation) might also develop clinical signs, but some of the dogs carrying the CMO mutation will live without showing clinical signs.

CMO test:
The CMO test is based on the CMO causing mutation and it will accurately provide the genotype of a tested dog as follows:

Homozygous Normal: These dogs have two copies of normal gene and are highly likely to be clear of CMO.

Carriers (low risk): These dogs have one copy of the CMO mutation and one copy of the normal gene. These dogs are at low risk to develop CMO themselves as a result of the CMO mutation and they will pass the mutation on to approximately 50% of their offspring. The other 50% of their offspring will receive a normal copy of the gene.

Homozygous Affected (high risk): These dogs have two copies of the CMO mutation and have a high chance of developing CMO (more than 57 % of dogs studied in the research program with two copies of the CMO mutation were clinically affected with CMO and 84% of the dogs exhibiting symptoms of CMO were Homozygous Affected). Veterinarians and breeders should be aware that some of the homozygous affected dogs may look normal, without showing obvious signs of CMO disease, but they will transmit the mutation to all their offspring.

Note: There may be other causes of CMO in the breeds so there is a possibility that dogs can develop a genetically different form of CMO due to other mutations that are not detected by this test.

Testing/Breeding recommendations:
Because of incomplete penetrance and varying expressivity, many of the dogs carrying the CMO mutation do not show clinical signs of the disease. These presumed healthy dogs carrying one or two copies of the mutation are used for breeding, whereby the disorder may be perpetuated. Within a cohort of 303 West Highland White terriers the frequency of the mutant allele was quite high, at about 36%. The CMO test will help to effectively reduce the number of CMO cases in the three terrier breeds if testing is done prior to mating. We strongly discourage breeding homozygous affected dogs. Carriers may be still used in breeding, if they are mated with homozygous normal (clear) dogs. About 50% of the progeny from such breeding schemes will be free of CMO mutation and can be used for selecting the best breeding dogs with desirable traits. A strict exclusion of all carriers would greatly narrow the gene pool within the breed which may lead to an increase of other hereditary diseases.


OPTIGEN is a service company established to provide DNA based diagnoses and information about inherited diseases of dogs like CMO.


Please note: OptiGen DOES NOT automatically provide sample collection kits for testing. If you would like OptiGen to send swabs, please contact, indicating the number of dogs you will be testing & swabs will be mailed to you.

Most OptiGen tests can use either cheek swabs or whole blood. Blood is always preferred. If you choose to send cheek swabs, they are usually available online or at your local pharmacy as "sterile cotton tipped applicator sticks" or "Cytobrushes". Please see the webpage for more information on cheek swab sampling.

Choose online submission and receive a 5% discount!

Check for other discounts available to you before starting the ONLINE FORM.

Please check out Tips for successful online entry!
Order is not complete until you receive a "Thank You" screen!

NOTE: Credit Card Payment - the actual charge to your credit card account will be made at the time the sample is received at OptiGen.
Debit Card/Check Card Payments - may be processed immediately depending on the card issuer's policy. Please take this into consideration when choosing the form of payment.

Online Form: complete and submit the form ONLINE
(You will get a printable confirmation page to include with your sample.)


Printable Form: print a copy of the blank form to complete by hand and submit by mail
(Feel free to make multiple blank copies to distribute to others, but be sure to provide all pages.)

OptiGen requires that all samples are free of any zoonotic pathogens.

Globoid Cell Leukodystrophy

Test Description: Canine Globoid Cell Leukodystrophy is a storage disease, one of a relatively rare group of disorders in which there is a deficiency of a particular enzyme necessary for normal metabolic processes within the body. The result is an accumulation in cells ("storage") of whatever product the enzyme normally acts upon. Typically, animals with a storage disease are normal at birth, fail to grow as rapidly as littermates, and at a consistent age, develop progressive signs of a disorder of the nervous system which will ultimately be fatal. In Canine Globoid Cell Leukodystrophy, the lack of the enzyme galactocerebrosidase results in an accumulation of galactocerebroside, a component of myelin. This disrupts the cells that normally produce myelin, a fatty substance that coats nerve cells, serves as an electrical insulator and is crucial to the normal conduction of nerve impulses. The progressive loss of myelin in the white matter tracts of the nervous system (brain, spinal cord and/or peripheral nerves) causes a variety of clinical signs such as lack of coordination, tremors, and weakness. Puppies affected with this disease are normal at birth but grow more slowly than their littermates, and begin to to show signs of incoordination by 3 to 6 months. (In basset hounds the signs are seen later, between 1.5 and 4 years of age.) You may see tremors, a stiff gait, weakness, poor balance (falling to one side, stumbling), changes in behaviour or attitude, and vision changes. The disease is rapidly progressive over a few months in Cairn and West Highland White Terriers. The disease is invariably fatal, and affected dogs generally die or are euthanized before adulthood. The progression is slower in miniature poodles, over 2 to 4 years.

DNA Test: This DNA test provides reliable identification of dogs that carry mutant gene(s). This test allows a breeder to control the mutant gene frequency in Cairn and West Highland White Terriers thus preventing the production of puppies affected with Canine Globoid Cell Leukodystrophy. This DNA test accurately and specifically identifies normal, carriers (heterozygous) and affected dogs.

Available Breeds:

Pricing: $85 US; $85 CDN (subject to HST - Canadian residents only)

Special contract prices are available for Breeder Clubs. Please contact HealthGene for more information.

Certification of Results: HealthGene will provide a certificate for each test result.

Samples: The following sample(s) can be submitted for the testing:

  • Blood sample in a lavender (EDTA) tube
  • Cheek swabs

Reporting Results: Test results are usually available in 10 business days from the moment the samples arrive at the laboratory. Test results can be reported by e-mail, fax, or by phone.

Order Test Kits/Forms: HealthGene - Molecular Diagnostic and Research Center, 1-877-371-1551

Kidney Ultrasounds

Purpose: to check the health of kidneys and rule out dysplasia.

If you would like to participate in Dr. Casal's Renal Dysplasia Study, you will need to fill out a Consent Form and a Cairn Study Form. A copy of pedigree will needed.

A small sample of blood (2-5mls in EDTA tube) will be necessary to accompany the paperwork. (This can drawn with the bile acids if being done.) Do not send on Fridays.

You will receive a copy of results for your records.