Brief Instructions


  1. Determine the type of test you are submitting. DNA Tests may be breed specific or cover multiple breeds. Fanconi Syndrome, Metabolic Screening and Urine Cystinuria are not limited to breed. Some diseases are covered by both DNA test and a Screen. For example, Newfoundlands can be tested for cystinuria by a Urine Cystinuria Test (also known as a nitroprusside test), however the exact mutation is known, and a DNA test will reveal the exact status of the dog - normal, affected or carrier.
  2. Collect the appropriate sample. For DNA Tests, 1–2 ml of whole EDTA blood or 2–3 Buccal swabs per animal. For Metabolic Screening, Fanconi Syndrome Screening and Urine Cystinuria Screening 35 ml of free catch urine is required.
  3. "Click here" to Login into our Sample Submission website. If you have not created an account with us (free), please do so using the instructions provided on the Sample Submission website. The website will open in a new window, so these instructions will not disappear.
  4. Fill in as much detail as possible. Clinical signs need to be detailed but succinct; please don't copy and paste all CBC/Chem screen if it is normal. Instead, a summary is much more helpful, e.g., "Chem Screen - Unremarkable, CBC- PCV 13%, retic 25%." For metabolic screens, it is important to include the reason for testing, especially tentative diagnosis or list of current differentials. For Fanconi Syndrome, it is vital that you fill in dietary information including Brand, Type, Amount, Duration on this food and TREATS (of ANY kind - jerky chicken, raw meat etc).
  5. Make sure you select "Mark the submission as Complete" when you are finished adding all the tests you would like to request. This will bring up a submission sheet with a unique Submission ID and you will see Print Submission Sheet at the bottom of the page, click on it to print the submission information.
  6. Take the printed form, and pack it with your sample. Check to ensure the sample is labeled with your name, your animals call name, and the test being requested.
  7. Choose the correct shipment method based on the test you have requested.
  8. Check the status of your sample on the submission website. If the status still shows "Waiting to be received" please check with your shipping company before contacting us.
  9. Once that status of your sample is marked as "Received", it typically takes 14 weeks to run the tests, depending on the workload in the lab, the frequency of that test being requested, and the sample type (blood vs. swab for DNA tests). So, please allow 3 weeks before contacting us to inquire about the results/dealy. To expedite the turnaround time, we only e-mail the results, so please verify that the e-mail address you give us is current and valid.
  10. If you have questions or queries at any stage of the submission process, please feel free to contact us.


In order to promote animal health and further public knowledge and awareness of Genetic Disease, please feel free to use/download information from our website pages, downloads, and documents in a responsible manner. However you must appropriately attribute the information to: PennGen - Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania. We reserve the right to change, delete, adjust or modify the information at any time - including but not limited to Clinical Signs, Breed Predilection and Cost of Testing. For questions on or for further clarification about citing our website, proper attribution of content, responsible use, etc., please contact us at PennGen@vet.upenn.edu BEFORE posting or distributing. Thank You.

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