PennGen Labs has Genetic Testing for Microphthalmia and Degenerative Myelopathy in Soft Coated Wheaten Terriers

We are happy to announce that the PennGen Laboratories, at the University of Pennsylvania School of Veterinary Medicine, are now offering genetic testing for Microphthalmia and Degenerative Myelopathy in Soft Coated Wheaten Terriers.

Submission Instructions: (please read through to the end before you begin the process)
  1. Before ordering tests:
    1. Please go to https://www.vet.upenn.edu/penngen for instructions on sample collection, where to order your DNA swabs, and how to ship to us. Briefly, you can purchase swabs online from DNAkit.eu or ezswabs.com. Please order brushes, not swabs, and buy enough for two brushes/dog.
    2. If there is already DNA at PennGen for your dog because the dog was previous tested for PLN at Penn, we can use that DNA to perform additional tests, and you will not need to send in blood or cheek brushes. The first step is to go back to your records and find the PLN test number. This will be either the 5-digit PennGen submission number, or a submission ID that has the letter W followed by four digits (Wxxxx) that was initially used when results were reported by email (before Sept. of 2015). If you cannot find the old email or that number, we need enough information to correctly identify the dog you want tested. This may be more difficult if the dog was tested as part of a litter. Useful information includes: Dog’s names (litter name, call name, registered name – whatever you were likely to have put on the submission form), date of birth, sex, registration number if you have it, parents names if the dog was tested as part of a litter, your name or name of co-owner who may have submitted the test. You will need this identification information as you create the submission on the PennGen website.
    1. Create a submission on the PennGen website. Your starting point in this process may vary for your situation, so that you may need to begin at a different point (a, b or c below):
      1. If you have never used the PennGen online submission system, you will need to create an account. Go to the University of Pennsylvania testing site at https://www.vet.upenn.edu/research/academic-departments/clinical-sciences-advanced-medicine/research-labs-centers/penngen/penngen-tests. Find and click the “Log In” button to get into the “Sample Submission Application”. This will take you to a page that lets you either log in, create an account, or reset a forgotten password (hint: retrieving your password requires that you remember what email address you used when creating the account). Click “Create an Account” and follow the directions to do so. Then go to step 2 to enter information about the dog you want to test (aka Create Animal Record).
      2. If you already have a PennGen account but want to test a dog that was first tested under the old system (Wxxx number, paper submission, email results), you will need to “Create Animal Record” for that dog. Provide the information requested, some of which is required. Note that identification information that you provide will appear on the test results report (although the parents information does not). Once you have successfully created an animal record, you can go to the next step.
      3. If you want to order a test (or tests) for a dog that is already in the PennGen Submission Application, create a submission (for a dog that was previously tested for PLN, or for a dog that you have just entered into the system) by going to your home page and click on the name of the dog you wish to test. Once the dog’s information comes up, make note of his/her PLN test submission number (if has already been performed). You will need this information as part of the submission.

        Click on the words at the bottom “Create A Submission”.

        This brings up a drop-down menu between the bottom two dark bars named “Test Type”. Click on the arrow to see the possible tests for Wheatens. There are three possible DNA tests: Microphthalmia (MO-SCWT), PLN-Associated Variant Genes, and Degenerative Myelopathy. The prices for the tests ordered individually are shown here. While we will apply discounts (see below) for multiple test combinations, and for testing DNA already available at PennGen, those discounted prices do not appear within the PennGen Sample Submission application.

        Click on the test you want (you can only click on one at a time, as you will see below). For each test, you must select a reason for testing. If you think you may have an affected, select affected. If it’s for breeding, select breeding, etc.

        You must also enter the type of sample that was collected (blood or cheek brush).

        Where it asks for date of collection and submission, just use the current date, or a guess at the date you will collect and submit.

        IMPORTANT: If this is a submission for tests that will use DNA from a previously submitted sample, put the PennGen or Wxxx test ID# number from the previous PLN test in the “Comment/Clinical Signs” box.

        This will help us to find the DNA from the previous test and recognize that we need to apply the discount for already available DNA to the charges.

        Click the Create Test Request button. At this point:
        i. if you want to order an additional DNA test for this dog, click the button for “Add another test request to this submission”. It will take you back to Request a New Test page where you can add another test and repeat again if you have a third test.

        Click the button for “Mark the submission as Complete” which will take you to the final page. Print the submission form, sign it, and send it in by mail (with blood or cheek brush sample as appropriate). Please be sure to read the information about shipping to PennGen on the website, and used address indicated on the form you just printed.

        IMPORTANT: If this is a submission for tests that will use DNA from a previously submitted sample, we won’t start the testing process until we receive the paper copy of the submission form.


      PRICING: (new submission refers to newly submitted blood or check brush sample)

      Individual tests

      PLN – Protein-losing Nephropathy Variant Genes $100 for new submissions

      Microphthalmia RBP4 variant $65 for new submissions $55 if DNA already available at PennGen

      Degenerative Myelopathy-only available in conjunction with another test (see below) $50 if DNA already available at PennGen

      Combinations

      $140 for ALL three together on new submission - $75 savings

      $120 for PLN and Microphthalmia submitted together on new submissions - $45 savings

      $105 for PLN and Degenerative Myelopathy submitted together on new submissions - $45 savings

      $90 for Microphthalmia and Degenerative Myelopathy on DNA already available at PennGen - $15 savings

      Litter Rate

      PLN test only – $60 per littermate puppy under four months of age when three or more are submitted together

      All three tests - $120 per littermate puppy under four months of age when three or more are submitted together

      IMPORTANT: If this is a submission for tests that will use DNA from a previously submitted sample, put the PennGen or Wxxx test ID# number from the previous PLN test in the “Comment/Clinical Signs” box.

      IMPORTANT: If this is a submission for tests that will use DNA from a previously submitted sample, we won’t start the testing process until we receive the paper copy of the submission form.

    Recommendations Concerning Protein‐Losing Nephropathy (PLN) in Soft Coated Wheaten Terriers

    Meryl Littman, VMD, DACVIM
    Professor Emerita of Medicine (Clinician‐Educator)

    University of Pennsylvania
    School of Veterinary Medicine

    August 4, 2016

    1. I recommend having each dog’s DNA sample tested for the PLN‐associated variant alleles at Dr. Paula Henthorn’s lab at Penn Vet. The results will help you know the individual’s risk for developing PLN in its lifetime and help you with decisions about breeding partners.
      1. The information about how to submit DNA samples (cytology brushes for cheek swabs, samples of whole blood or semen) is found at www.scwtca.org/health/dnatest.htm.
      2. Dogs with homozygous positive genotype (2 copies) have the highest risk of developing PLN, dogs with heterozygous genotype (1 copy) have an intermediate risk, and dogs with homozygous negative genotype (no copies) had the lowest risk of developing PLN during their lifetimes. Any breed dog can develop PLN, which can be due to infectious, inflammatory, neoplastic, toxic, or genetic influences.
      3. The current effort is to choose mates for dogs so as to avoid producing homozygous positive dogs. Since the allele frequency is high, culling heterozygotes is not recommended since it would lead to loss of genetic diversity in the breed and possible future (other) genetic problems. Thus, healthy dogs that are carriers of one or two copies should have mates that are homozygous negative, so that puppies will be clear or heterozygous at most.
    2. Every healthy Wheaten should be screened (blood and urine tests) annually for changes that might suggest the genetic predispositions for the breed (PLN, protein‐losing enteropathy (PLE), Addison’s disease, renal dysplasia, etc). There are no genetic tests yet for these except for PLN. Dogs that are carrying one or two copies of the PLN‐associated variant alleles should be checked for proteinuria more often, perhaps 2‐4 times a year, especially after age 3 years. Dogs that are sick should have a thorough work‐up.
      1. Annual recommended screening usually involves urinalysis (SG, dipstick, sediment), either microalbuminuria or urine protein/creatinine ratio (UPC), CBC (complete blood count, to check for cytopenias, eosinophilia), metabolic biochemical screen (Chemscreen, including creatinine, BUN, total protein, albumin, globulin, Na, K, Ca, Phos, glucose, ALT, Alk phos, and cholesterol), and in tickborne or heartworm endemic areas, a SNAP‐4DxPlus or AccuPlex4 test. An SDMA test is also helpful to evaluate kidney function. A ‘minimal screen’ (less expensive) might include a urine SG/dipstick, blood PCV/TS, creatinine, BUN, albumin and globulin. If any tests are abnormal, further workup is advised.
      2. If proteinuria is found or suspected, interpretation must be made regarding urine pH, sediment, if the sample were taken post‐ejaculation, post‐prandial, whether the sample was obtained from home or in the clinic, and whether the dog is hypertensive or on medication that could raise blood pressure measurement (eg, phenylpropanolamine for urinary incontinence).
      3. If samples are requested for UPC determination, either for screening or to monitor PLN dogs that are on treatments, because of daily variability it is suggested that 3 samples be brought in from home, collected each day (first morning sample is best) for 3 days, saved in the refrigerator, and brought to the vet so that equal aliquots (1 ml) of each sample can be mixed together and submitted as one sample, to get an averaged UPC determination. Daily variability can be as much as 80% for dogs with UPC of 0.5 and 35% for dogs with UPC of 12.0. Normal UPC is less than 0.2; borderline is 0.2‐0.4, and greater than 0.4 is abnormal.
    3. When a dog has proteinuria:
      1. It could be due to pre‐renal, renal, or post‐renal causes. Even if the dog is a carrier of one or two copies of the PLN‐associated variant alleles, it should not be assumed to have PLN (renal cause) and will need a work‐up, for instance to rule out urinary tract infection, tickborne/heartworm disease, neoplasia, hypertension, and consideration of other causes for PLN such as amyloidosis, lupus, shigatoxin (raw meat diet), etc.
      2. Each dog’s diagnosis and management plan must be individualized. For instance, dogs with PLN should be a fed a renal diet that is modified to be lower in protein and phosphorus. But if the dog also has had food allergies, inflammatory bowel disease, PLE, pancreatitis, skin or ear issues, then the diet also needs to be lower in fat and also hypoallergenic. There are specific diets that are recommended depending on the needs of the individual. Likewise, medications such as ACE inhibitors, antihypertensives, antithrombotics, omega‐3 fatty acid supplements, antimicrobials, etc. are individualized depending on the dog’s test results and tweaked, based on monitoring over time. I have seen dogs with PLN live quality lives for much longer than in the past because we are screening for occult abnormalities and starting interventions earlier than we used to, when they can really have impact to slow the progression of disease. There are 8 recent IRIS Consensus papers concerning the diagnosis and treatment of PLN that I recommend. They are available on‐line..
      3. Since these cases can be very complicated, I recommend getting a consultation with a specialist near you who is Board Certified and a Diplomate of the American College of Veterinary Internal Medicine, with the initials ‘DACVIM’ behind their name. Your vet can recommend one or you can find one near you by going to www.acvim.org.
      4. After 41 years of vetting and a wonderful 38‐year career at Penn Vet, I retired in July 2016. I am still travelling, speaking, writing, and giving on‐line advice. If you want my opinion concerning questions about Wheaten or Airedale genetic diseases (PLN, PLE, inflammatory bowel disease, food allergies, Addison’s, renal dysplasia), Lyme and other tick‐borne diseases, Leptospirosis, vaccinations, etc., or you want a consultation regarding a sick or healthy dog, you and your vet can still reach me at merylitt@vet.upenn.edu, however, my on‐line advice is no longer free. Fees for ‘fast’ questions are $25‐50 and consultations are $125‐250, depending on complexity. Since I may be travelling, I may not respond to your emails as fast as I used to.

    I do hope you and your loved ones stay well so you can enjoy each other for a long, long time!
    Take care.
    Meryl

     

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