Hereditary diseases of companion animals are an important problem for clinicians, breeders and owners. More than 900 inherited disorders have been identified in the dog and over 200 in the cat. The Section of Medical Genetics at the University of Pennsylvania's School of Veterinary Medicine has been in the forefront of reporting and characterizing hereditary diseases in companion animals for more than 40 years, including research to uncover the genetic basis and developing genetic tests for canine and feline diseases. PennGen is a genetic testing facility operated through the Section of Medical Genetics as a collection of not-for-profit laboratories offering testing for a variety of genetic diseases, metabolic screening for inborn errors of metabolism, hematological, and other diagnostic services.
Steps for Testing at PennGen
Here are the steps to access and use our services:
- 1. Find the test you need
Please read the following carefully before deciding which test to order.
Metabolic Screening (typically performed on urine specimens):
- Urine samples can be screened for abnormal substances (metabolites) to look at biochemical pathways gone bad.
- The presence of lysosomal storage diseases such as various types of mucopolysaccharidoses (urine MPS spot test) can be assessed.
- Urine can be assessed to determine if an animal has Fanconi Syndrome.
- The presence of cystine in the urine (nitroprusside test) can be evaluated for suspected cystinuria.
DNA-tests (Molecular Tests)
- These are EDTA blood, cheek brush/swab, or semen samples for the isolation of DNA.
- These tests are possible when mutation/variant or marker is known in your breed.
- Check our web pages to determine if we offer the test for your breed. When in doubt, email us.
- If you suspect a patient may have one of the disorders for which we have test but your breed is NOT listed, negative results will be inconclusive, as the underlying DNA mutation/variant may be different.
Specific DNA Tests may be breed-specific or appropriate for multiple breeds. Other tests (Fanconi Syndrome, Metabolic Screening, Urine Cystinuria) can be used on all breeds.
Use the PennGen Test Finder to search by breed or by disease to identify the tests you need.
- 2. Collect the appropriate sample(s) and label with animal’s call name and owner’s last name, date and test
For DNA Tests, 1–2 ml of whole EDTA blood or 2 cheek brushes per animal. For Metabolic Screening, Fanconi Syndrome Screening and Urine Cystinuria Screening, 3–5 ml of urine (free catch or cystocentesis) is required. We have very specific instructions on how to collect, store, and ship your samples. Please read these instructions as they will help you get the best results possible. Follow these links for specific sample collection and shipping instructions.
- 3. Log in to your account on our Sample Submission Application and Create a Test Request
If you don't already have a PennGen account you can create an account here.
If you have an existing account, you can login here.
If you forgot your password, you can get a new password here.
After you login to your account, create animal record and then create a submission to request the specific test for your animal/patient. Print the submission sheet containing the animal information and submission ID. Go to the General Instructions page for more information.
- 4. Ship your package to PennGen
Take the printed submission sheet, and pack it with your sample. Check to ensure the sample and the submission sheet are labeled with the animal’s call name, owner's last name, and the test being requested. Test-specific packaging and shipping instructions along with international shipping instructions can be found on the following links.
- 5. Payment and Reports
It takes up to 4 weeks to complete testing the samples. After the testing is completed, you will receive a billing notification email. You will then be able to pay online with a credit card. Immediately after the payment is successfully made, you will be able to view the results online and a copy of the report will also be emailed at that time. Learn more about costs and payments here. Please note that you will not be able to pay until the requested testing is completed.