Health Testing

What is Health Testing?

Health testing refers to recommended health screenings to check for breed-specific health concerns. Some health tests are based on phenotypic evaluations (e.g. Cardiac Disease, Eye Disease, Elbow Dysplasia, Hip Dysplasia, etc.), while others are based on genetic testing (e.g. Canine Multifocal Retinopathy, Degenerative Myelopathy, Progressive Retinal Atrophy, etc.). "Health testing can help everyone from breeders to buyers to researchers. Breeders can use the database to analyze pedigrees and create matches between dogs that show more health strengths than weaknesses. Puppy buyers can know they are looking at puppies that have a reduced chance of inheriting breed-specific health problems when the parents show favorable health screening results." ¹

Note: Health testing is different than a vet check. A vet check can reassure you that your dog is healthy at that point of time, but it cannot tell you about the genetic conditions which may occur later in life.

The Orthopedic Foundation for Animals (OFA) mission is to "promote the health and welfare of companion animals through a reduction in the incidence of genetic disease." ²

Per OFA's website, "The OFA databases are central to the organization's objective of establishing control programs to lower the incidence of inherited disease. They serve all breeds of dogs and cats, and provide breeders a means to respond to the challenge of improving the genetic health of their breed through better breeding practices. The OFA databases are expanded as more tests become available.

The CHIC (Canine Health Information Center) database is a tool that collects health information on individual animals from multiple sources. This centralized pool of data is maintained to assist breeders in making more informed breeding choices, and for scientists in conducting research. The CHIC program is breed-specific. In order to be in this database, a dog must be CHIC Certified.

The CHIC DNA Repository collects and stores canine DNA samples along with corresponding genealogical and phenotypic information to facilitate future research and testing aimed at reducing the incidence of inherited disease in dogs." ³

The OFA-CHIC health testing requirements for Mastiffs include:

Hip Dysplasia (OFA Evaluation)
Elbow Dysplasia (OFA Evaluation)
Eye Examination- Minimum age 24 months (Eye Examination by a boarded ACVO Ophthalmologist)
Cardiac Evaluation (One of the following)
- Advanced Cardiac Exam
- Basic Cardiac Exam (recommend exam by Cardiologist)
Autoimmune thyroiditis (Optional but recommended) (OFA evaluation from an approved laboratory)
Cystinuria (Optional but recommended)
- Urine Nitroprusside Test (Intact males only) available from UPenn. Recommend to start testing at the age of 18 months and test annually; Results can not be posted to OFA
- Cystinuria-Associated Marker (Type 3) DNA from an approved laboratory (UPenn recommended); Results registered with OFA
Patellar Luxation (Optional but recommended) (Veterinary Evaluation; Results registered with OFA)
Canine Multifocal Retinopathy (Optional but recommended) (DNA-based CMR test from an approved lab; Results submitted to OFA)
Degenerative Myelopathy (Optional but recommended) (DNA-based DM test from an approved laboratory; Results registered with OFA)
D-PRA (Dominant Progressive Retinal Atrophy) (Optional but recommended) (DNA-based D-PRA test from an approved laboratory; Results registered with OFA)

Below is a list of health tests (listed in alphabetical order) that are available (and recommended) for Mastiffs.

Note for MCOA Members - MCOA Health Testing Award: The following pdf contains details about the MCOA Health Testing Award, the Award requirements, and application - MCOA_HealthTesting_Award_Final.pdf.

Health Testing Pamphlet

Click here to download "The ABC's of Health Testing" pamphet brought to you by the Mastiff Club of America (MCOA) Health Committee.

Autoimmune Thyroiditis (Thyroid)

"Autoimmune thyroiditis is the most common cause of primary hypothyroidism in dogs. The disease has variable onset, but tends to clinically manifest itself at 2 to 5 years of age. Dogs may be clinically normal for years, only to become hypothyroid at a later date. The marker for autoimmune thyroiditis, thyroglobulin autoantibody formation, usually occurs prior to the occurrence of clinical signs. Therefore, periodic retesting is recommended." ⁴ For more information, visit the OFA web site.

Test Type: Blood
Testing Age: Under 12 months (not eligible for OFA number), 12 months and older (an OFA number will be issued to all dogs found to be normal)
CHIC Requirement: Optional
MCOA Health Testing Award Requirement: Required - At or after 22 months of age
OFA Form: An "Application for Thyroid Database" form (download) and payment to OFA must accompany the specimen.

Canine Multifocal Retinopathy Type 1 (CMR1)

Canine Multifocal Retinopathy Type 1 is an autosomal recessive eye disorder that causes raised lesions to form on the retina. The lesions alter the appearance of the eye but usually do not affect sight, although they can.

This genetic factor is inherited in an autosomal, recessive, mode. An individual can be free of the disease (homozygote normal), affected (homozygous affected), or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Therefore, it is important to identify carriers correctly to prevent spreading of a mutation.

Test Type: DNA
Testing Age: No age requirement
CHIC Requirement: No
MCOA Health Testing Award Requirement: Required - At any age
OFA Form: Some testing labs will submit the results to OFA on your behalf. OFA also provides a "DNA Based Genetic Disease" form that can be used to register existing DNA test results (test has already been performed and you have the result) for all DNA based tests, including Clear By Parentage applications.

Cardiac Disease

Congenital Heart Disease
"Congenital heart disease in dogs is a malformation of the heart or great vessels. The lesions characterizing congenital heart defects are present at birth and may develop more fully during perinatal and growth periods. Many congenital heart defects are thought to be genetically transmitted from parents to offspring; however, the exact modes of inheritance have not been precisely determined for all cardiovascular malformations." ⁵ For more information, visit the OFA web site.

Test Type: Exam
Testing Age: Under 12 months (not eligible for a breed registry number), 12 months and older (a breed registry number will be issued to all dogs found to be normal)
CHIC Requirement: Yes
MCOA Health Testing Award Requirement: Either OFA Basic Cardiac or OFA Advanced Cardiac is Required - Must be performed by a veterinary cardiologist at or after 12 months of age
OFA Form: The examining veterinarian or veterinary office must complete the "Basic Cardiac" form.

Adult-onset or Developmental Cardiac Disease
"Adult-onset or developmental cardiac diseases develop later in life and include for example; hypertrophic, arrhythmogenic and dilatative cardiomyopathies. Because acquired disease can appear subsequent to a normal cardiac exam, adult onset clearances are only valid for one year from the time of the exam. Many adult-onset or developmental cardiac diseases may have a genetic component, however the exact modes of inheritance have not been precisely determined for all cardiovascular malformations." ⁶ For more information, visit the OFA web site.

"As of October 1, 2020 – In order to maximize the accuracy and utility of OFA cardiac certification, the ACVIM Cardiology Specialty Group and the Orthopedic Foundation for Animals is now requiring echocardiographic examinations be submitted in order to obtain an Advanced Cardiac Database certification." ⁷

Test Type: Exam by a veterinary Cardiologist
Testing Age: Under 12 months (not eligible for a breed registry number), 12 months and older (a breed registry number will be issued to all dogs found to be normal)
CHIC Requirement: No
MCOA Health Testing Award Requirement: Either OFA Basic Cardiac or OFA Advanced Cardiac is Required - Must be performed by a veterinary cardiologist at or after 22 months of age
OFA Form: The multipart "Advanced Cardiac" forms are only available from the attending Cardiologist

Cystinuria

Cystinuria is a genetic metabolic defect of the kidneys whereby they do not re-absorb the amino acid cystine correctly and then go on to form crystals and stones in the kidneys and bladder thereby causing urinary tract infections and dangerous, sometimes deadly, blockages. Canine Cystinuria can be of three types:

Type I (autosomal recessive)
Type II (autosomal dominant)
Type III (formerly known as non-Type I). Type III cystinuria shows a complex inheritance pattern and is usually found in male dogs

Note: Mastiffs have Type III Cystinuria which is a more complex disease and the mode of inheritance is not fully understood.

Cystinuria-Associated (Type 3) DNA test
It is important to note that unlike some of the other DNA tests that are available for the Mastiff breed, the Cystinuria-Associated Marker (Type 3) DNA test that is currently offered is an "at risk" test. It does not test for Cystinuria or stone formation. It tests for a susceptibility allele that provides high risk for stone formation in intact males (based on Dr. Henthorn’s initial research).

Test Type: DNA
Testing Age: No age requirement
CHIC Requirement: Optional
MCOA Health Testing Award Requirement: Required - At any age
OFA Form: OFA provides a "DNA Based Genetic Disease" form that can be used to register existing DNA test results (test has already been performed and you have the result) for all DNA based tests.
Note: The Mastiff Club of America Health Committee strongly recommends the use of PennGen, a not for profit genetic testing laboratory operated under the auspices of the University of Pennsylvania School of Veterinary Medicine, for Cystinuria-Associated Marker (Type 3) DNA testing. The University of Pennsylvania School of Medicine is conducting on-going Cystinuria research and is considered an authoritative source in the veterinary field. The MCOA Health Committee does not have a financial interest in the work being conducted by the University of Pennsylvania. The recommendation is driven to help with the collection of data and support on-going research for betterment of the Mastiff breed. For more information, visit the PennGen web site.

Nitroprusside Urine Testing
Since the Cystinuria-Associated Marker (Type 3) DNA test is an "at risk" test, it is recommended that the nitroprusside urine testing through the University of Pennsylvania (PennGen) for ALL intact males regardless of their DNA test results be done annually. Any time there is cystine in the urine, there is the risk of forming cystine stones.

Test Type: Urine
Testing Age: No age requirement
CHIC Requirement: Optional
MCOA Health Testing Award Requirement: Required - Intact males only
Testing Link: For more information, visit the PennGen web site.

Degenerative Myelopathy

"Degenerative Myelopathy is a debilitating disease that causes gradual paralysis in many dog breeds. It is caused by a degeneration of the spinal cord that onsets typically between 8 and 14 years of age. It presents first with the loss of coordination of the hind legs. It will typically worsen over six months to a year, resulting in paralysis of the hind legs. If signs progress for a longer period of time, loss of urinary and fecal continence may occur and eventually, weakness will develop in the front limbs. An important feature of Degenerative Myelopathy is that it is not a painful disease." ⁸ For more information, visit the OFA web site.

The exact cause of Degenerative Myelopathy is unknown although a genetic mutation is highly suspected. DNA testing can identify: dogs that are clear of DM (two normal copies of the gene), dogs that are carriers (one normal copy of the gene and one abnormal copy), and dogs at a much higher risk for developing DM (two copies of the mutated gene).

Test Type: DNA
Testing Age: No age requirement
CHIC Requirement: No
MCOA Health Testing Award Requirement: Required - At any age
OFA Form: Some testing labs will submit the results to OFA on your behalf. OFA also provides a "DNA Based Genetic Disease" form that can be used to register existing DNA test results (test has already been performed and you have the result) for all DNA based tests, including Clear By Parentage applications.

Elbow Dysplasia

"Elbow dysplasia is a general term used to identify an inherited polygenic disease in the elbow. Three specific etiologies make up this disease and they can occur independently or in conjunction with one another. These etiologies include:

Pathology involving the medial coronoid of the ulna (FCP)
Osteochondritis of the medial humeral condyle in the elbow joint (OCD)
Ununited anconeal process (UAP)" ⁹

For more information, visit the OFA web site.

Test Type: Radiographic Evaluation
Testing Age: At least 4 months of age and under 24 months of age (Preliminary), 24 months of age or older (Permanent)
CHIC Requirement: Yes (24 months)
MCOA Health Testing Award Requirement: Required - At or after 24 months of age
OFA Form: Veterinary clinics can register to submit digital images and find detailed directions on how to submit images digitally at www.ofa.org/veterinarian/veterinary-submissions. OFA also provides a "Hip and/or Elbow Dysplasia" form.

Eye Disease

"OFA CAER (Companion Animal Eye Registry) exams are ophthalmic examinations performed by American College of Veterinary Ophthalmologist (ACVO) Diplomates, to assess dogs for the presence or absence of observable hereditary eye disease. Dogs with normal exam results will receive OFA eye certification numbers that are valid for one year. Eye certifications are an important part of the routine health screenings practiced by responsible dog breeders to produce healthy puppies." ¹⁰ For more information, visit the OFA web site.

Test Type: Exam by a veterinary Ophthalmologist
Testing Age: No age requirement
CHIC Requirement: Yes (24 months)
MCOA Health Testing Award Requirement: Required - Within one year of submitting all testing data and performed at or after 24 months of age
OFA Form: The multipart forms are only available from the attending ophthalmologist. If your ophthalmologist is using OFA Online to fill out CAER eye exam results, please visit www.ofa.org/online to create your application form online.

Hip Dysplasia

Canine Hip Dysplasia (CHD) is an orthopedic problem which can result in remodeling of the femur, wearing away of the acetabulum, and cause arthritic changes in the hip joints. Although Canine Hip Dysplasia is primarily an inherited defect, the severity of the disease can be influenced by environmental factors (e.g. growth rate, diet, and exercise, etc.).

OFA Hips
"Screenings for Hip Dysplasia are performed by a veterinarian with x-rays sent to OFA for grading and certification. The OFA classifies hips into seven different categories: Excellent, Good, Fair (all within Normal limits), Borderline, and then Mild, Moderate, or Severe (the last three considered Dysplastic)." ¹¹ For more information, visit the OFA web site.

Test Type: Radiographic Evaluation
Testing Age: At least 4 months of age and under 24 months of age (Preliminary), 24 months of age or older (Permanent)
CHIC Requirement: Yes (24 months)
MCOA Health Testing Award Requirement: Required - At or after 24 months of age
OFA Form: Veterinary clinics can register to submit digital images and find detailed directions on how to submit images digitally at www.ofa.org/veterinarian/veterinary-submissions. OFA also provides a "Hip and/or Elbow Dysplasia" form.

AIS (ANTECH Imaging Services) PennHIP
PennHIP is a research-based hip-screening procedure that has been proven to be the most accurate and precise method to measure hip laxity. It can identify — as early as 16 weeks of age — dogs that are susceptible to developing hip dysplasia. For more information, visit the AIS PennHIP web site. Your PennHIP veterinarian will submit the three PennHIP radiographs to ANTECH Imaging Services for evaluation. The evaluation report includes: Distraction Index (DI), Arthritis, and Breed Laxity Profile Ranking.

Test Type: Radiographic Evaluation
Testing Age: 16 weeks of age. However, researchers recommend remeasuring the DI after maturity to confirm DI obtained at earlier ages.
CHIC Requirement: No
MCOA Health Testing Award Requirement: Required - At or after 24 months of age
How to locate a certified PennHIP veterinarian: https://antechimagingservices.com/antechweb/locate-a-pennhip-veterinarian
How to submit results to OFA: "The OFA will record PennHIP results on request. The dog must have an existing OFA record of some type. To submit, the owner should email or mail a copy of the PennHIP report to the OFA at: ofa@offa.org, or 2300 E Nifong Blvd Columbia, MO 65201. The fee to record these results is $25, and payment must accompany the request. The OFA will record the left and right DI’s only, not the percentile. The OFA reviews all requests on a case by case basis, and reserves the right to not to record or publish any evaluations from outside organizations." ¹² For more information, visit the OFA web site.

Patellar Luxation

"The patella, or kneecap, is part of the stifle joint (knee). In patellar luxation, the kneecap luxates, or pops out of place, either in a medial or lateral position." ¹³ For more information, visit the OFA web site.

Test Type: Exam by veterinarian
Testing Age: Under 12 months (not eligible for a breed registry number), 12 months and older (a breed registry number will be issued to all dogs found to be normal)
CHIC Requirement: No
MCOA Health Testing Award Requirement: Required - At or after 12 months of age
OFA Form: The examining veterinarian or veterinary office must complete the "Patellar Luxation" form.

Progressive Retinal Atrophy (Dominant)

Progressive Retinal Atrophy (PRA) is a family of inherited progressive degenerative eye diseases affecting the retina which ultimately result in blindness.

PRA in the Mastiff breeds is a dominant condition. This means that a dog only needs to inherit one copy of the defective gene to be affected by the disease.

Test Type: DNA
Testing Age: No age requirement
CHIC Requirement: No
MCOA Health Testing Award Requirement: Required - At any age
OFA Form: Some testing labs will submit the results to OFA on your behalf. OFA also provides a "DNA Based Genetic Disease" form that can be used to register existing DNA test results (test has already been performed and you have the result) for all DNA based tests, including Clear By Parentage applications.

Shoulder Osteochondrosis (OCD)

"While the exact mode of inheritance is unknown, Osteochondrosis is considered to be an inherited disease. In affected individuals there is a disruption in ossification of the cartilage mold beneath the articular cartilage of the joint. This results in aseptic necrosis and when the weakened area collapses, the articular cartilage fractures resulting in lameness." ¹⁴ For more information, visit the OFA web site.

Test Type: Radiographic Evaluation
Testing Age: Under 12 months (not eligible for a breed registry number), 12 months and older (a breed registry number will be issued to all dogs found to be normal)
CHIC Requirement: No
MCOA Health Testing Award Requirement: Not required
OFA Form: Veterinary clinics can register to submit digital images and find detailed directions on how to submit images digitally at www.ofa.org/veterinarian/veterinary-submissions. OFA provides a "Shoulder Osteochondrosis" form.

von Willebrand Disease

"von Willebrand Disease (abbreviated vWD) is an inherited bleeding disorder caused by lack of von Willebrand factor protein (vWF). This protein circulates in the blood stream and must be present at the site of blood vessel injury in order to control bleeding from that vessel." ¹⁵ For more information, visit the Cornell University College of Veterinary Medicine web site.

Note: There is no DNA test for von Willebrand for Mastiffs. Laboratory diagnosis of vWD is based on results of von Willebrand factor antigen assay (abbreviated vWF:Ag). This test measures the amount or concentration of vWF in a blood sample.

Test Type: Blood
Testing Age: No age requirement
CHIC Requirement: No
MCOA Health Testing Award Requirement: Not required
OFA Form: The least expensive way to order this test is through the Animal Health Diagnostic Center at Cornell web site.

Additional Tests/Recommendations

AKC DNA Profile: "The AKC has built the world’s largest database of canine DNA profiles for parentage verification and genetic identity purposes. The DNA Profile Program is for owners and breeders electing to add value to their breeding programs by eliminating concerns or questions about identification and parentage." ¹⁶ For more information, visit the AKC web site.
CHIC DNA Repository (highly recommended): "The CHIC DNA Repository collects and stores canine DNA samples along with corresponding genealogic and phenotypic information to facilitate future research and testing aimed at reducing the incidence of inherited disease in dogs." ¹⁷ For more information, visit the OFA web site.
Coat Length: Often referred to as the "Fluffy" test, this DNA tests for varying coat length genotypes.

OFA Approved Testing Labs

Autoimmune Thyroiditis

Animal Health Diagnostic Center (AHDC)
Animal Health Laboratory
Antech Diagnostics (only the Lake Success, NY location of Antech has been certified to process OFA thyroid panels)
Applied BioSciences
IDEXX
Michigan State University
Texas A&M Veterinary Medical Diagnostic Laboratory
University of California Davis

Canine Multifocal Retinopathy Type 1 (CMR1)

Animal Genetics
Embark
Eurovetgene
GenSol
Helica
Orivet
Paw Print Genetics
UC Davis - VGL
VetGen
Wisdom Health

Cystinuria Type 3

PennGen
VetGen

Degenerative Myelopathy

Animal Genetics
DDC Veterinary
Embark
GenSol
Helica
Laboklin
OFA/University of Missouri
Orivet
Paw Print Genetics
UC Davis - VGL
VetGen
Vetnostic
Wisdom Health

Progressive Retinal Atrophy (Dominant)

Animal Genetics
Embark
Eurovetgene
Genetic Technologies (Australia)
GenSol
Helica
Laboklin
Orivet
Paw Print Genetics
Wisdom Health

References

Updated: 11/12/2024