Non-HSF4 Cataracts

Specimen

Collection Information

Select the appropriate Sample Collection Protocol based on the sample type that will be submitted.
Cheek Swab
Blood
Semen
Dew Claw and Tail Docking

Shipping Information

A completed submission form and receipt of payment must be included in the package with any samples before any testing will begin.

Please include all samples for a given order IN THE SAME SHIPMENT. If you are unable to submit a sample from one or more dogs, please submit a separate order for those dogs once the samples are ready to be shipped.

Please follow specific shipping instructions provided in the Sample Collection Protocols linked above.

If the samples will be shipping from out of the USA, please follow these USDA Importation Procedures and include the required completed documents.

Additional Information

The Non-HSF4 Cataracts Test is a genetic test looking for the presence of genes associated with Non-HSF4 Cataracts in Miniature American Shepherds.

Sample Submission Requires a Completed Submission Form and Online Payment
Download and complete the Canine Genetic Testing Submission Form from the ADDL website. One submission form will need to be completed for each dog unless the test is for a litter. In the case of a litter, you may complete the Canine Genetic Testing Litter Submission Form.
Include a printed copy of the completed submission form and paid receipt with the sample submission. Testing will NOT begin until payment has been received in full. You will receive a copy of the receipt in the confirmation email once the checkout process has completed.

Pricing
Individual Tests:
1-3 Dogs: $70.00 for each dog
4 or more: $63.00 for each dog
Combo of Two Tests:
1-3 Dogs: $110.00 for each dog
4 or more: $95.00 for each dog

Payment
Once the submission form(s) has been completed, please go to the ADDL Genetic Testing Payment website to submit payment PRIOR TO SHIPPING ANY SAMPLES. Please note, the payment website will timeout if inactive for 15 minutes without saving/submitting information. You will need to enter the name and sex of each dog as one of the online form steps. Please have this information ready to prevent a system timeout from occurring.

Select the name of the correct testing option for payment based on individual vs combo test and quantity of dogs getting that specific test order. Individual tests are to be used if it is the only test that a specific dog will be tested for. Combo tests are to be used when a specific dog will get tested for the combination of tests included with that combo. To ensure price breaks work accurately, please chose the 1-3 dogs testing option or the 4+ dogs testing option based on the number of dogs you are submitting samples for on that specific testing option. For questions, please contact the ADDL by phone at 765-494-7440 or email addl@purdue.edu.

Results
Please view the Non-HSF4 Hereditary Cataracts (NHHC) Result Interpretation page for information explaining the meaning of report results.

Condition Information

Non-HSF4 Hereditary Cataracts (NHHC)

Cataracts develop when the typically clear lens of the eye becomes opaque; this opacity causes diminishment – or total loss, when severe – of vision. In dogs, cataracts are assumed to be inherited unless there is a known history of: ocular trauma, diabetes mellitus, advanced age, chronic uveitis, nutritional deficiencies, or exposure to specific medications or environmental toxins.

Inherited cataracts have been reported in Miniature American Shepherds, diagnosed on examination by board-certified veterinary ophthalmologists. These cataracts are not caused by the two currently-known HSF4 variants; in other words, affected Miniature American Shepherds test clear for the HSF4 mutations.

The cataracts in these breeds do not develop until the dog is aged 3-5 years, which is unfortunate, because some dogs may have been bred by that age, and before it was known they were affected. These cataracts are bilateral and they progress very rapidly; the dog is typically blind and requires cataract surgery within months of the cataracts first appearing.
Research carried out at Purdue University indicates that this disease is inherited in an autosomal recessive manner. We have identified a mutation within a disease-associated gene and all affected dogs have two copies of this mutation. We are now offering a genetic test which allows owners to determine their dog’s status for this mutation (clear, carrier, or affected) in order to diagnose affected dogs and to guide future breeding decisions. Carriers do not need to be removed from the breeding population; however, they should only be bred to clear mates to avoid producing affected offspring. This is only the third genetic test available to aid in prevention of this condition, and the first in a gene that is not HSF4.