# DCM Testing Now for Dobie.



## Debbie Skinner (Sep 11, 2008)

A friend of mine with Beauces & Dobies just sent me this information. It's been a long time coming, but now there is a genetic test for DCM for the Dobermann.

The link is now active and the Doberman DCM DNA test is a reasonable $60.00. See the info below or through the link to the website.



http://www.vetmed.wsu.edu/deptsVCGL/Doberman/index.aspx


Genetic Mutation Testing Service for Doberman Pinscher Dilated Cardiomyopathy

The VCGL laboratory has just released a test for the genetic mutation associated with the development of dilated cardiomyopathy in Doberman pinscher dogs. Follow the link below to test information and request forms.
*Update on Doberman pinscher dilated Cardiomyopathy (DC) *
Doberman pinscher DCM is an adult onset heart muscle disease that can lead to sudden death or the development of congestive heart failure where the dog starts to cough or becomes short of breath. 
This is an inherited disease, but it is adult onset. The average age at which clinical signs may be observed or a Holter monitor becomes abnormal is 6 years of age. However, this is widely variant. Some dogs will show it younger and some, not until they are much older! 
This disease can affect the electrical system of the heart or the contractility of the heart muscle. Since the disease is adult onset and can start at varying ages, we recommend an annual echocardiogram and Holter monitoring after 3 years of age.

You have two methods to submit samples of your dog's DNA for testing: *Blood Draw or Cheek Swabs*. Both sample types are generally processed within about 1-2 weeks.*

Blood Draw:* One way to test your dog is to submit a small blood sample. Have your veterinarian or a veterinary technician collect a small blood sample (0.5 - 1.5 mls is plenty!) into an EDTA tube. Most veterinary hospitals have these readily available. Mail the blood sample with completed *DNA Submission Forms* (see details in the white box at the right of this page). There are no special shipping requirements. *

Cheek Swab(s):* Another way to test your dog is to use cheek swabs. No special training is required to collect a swab sample. Cheek swab samples are obtained by brushing the cells inside the dog's cheek with the swab. When you order a Test Kit from us, you will receive two swabs (per dog) and written instructions with photos that detail how to take this sample. Instructions are also available on this website.
*To Order a Cheek Swab Test Kit:* 
Use the Online Request for a Cheek Swab Test Kit 
*OR* 
Contact the Washington State University Veterinary Cardiac Genetics Laboratory (WSU VCGL) to request a test kit. Send an email to [email protected] that includes: 



1. Your name 
2. Your mailing address
3. The number of dogs to be tested
4. How you would like to be notified (E-mail or FAX)
5. Include email address if you wish to be notified by E-mail.
A test kit, which includes the sampling brushes and instructions for obtaining the sample will be mailed to you. Obtain the sample by brushing the inside of the dog's cheek and gum area. Mail the brush back to WSU VCGL along with payment for the test: 
§ For 1-4 tests included in a single shipment the cost is $60 US Dollars per test
§ For 5 or more tests included in a single shipment a 15% discount will be applied for a cost of $51 US Dollars per test.
§ We can accept payment in US Dollars by check, money order, or credit card (MasterCard or Visa). Please do not send cash. Check Test results will generally be available within one to two weeks. Please indicate if you want to be notified of results by email or FAX. 
*Click for Printable Instructions for Use of the Test Kit*. 

They are also going to have an online test result database for those that want to share the results of negative or positive.

http://www.vetmed.wsu.edu/deptsVCGL/doberman/TestResults.aspx


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## Gina Pasieka (Apr 25, 2010)

I am always a little leary of a new test until there is some more information available. Here is the most current information available....it is an important step, however I would not base my entire breeding practice on this until the test has proven itself. The gold standard will remain echo and holter monitor at least for a little while. Please let me know if you have any questions about the proceedings information below.



Dilated cardiomyopathy (DCM) is a familial disease in the Doberman pinscher (DOBE) that often causes sudden death or heart failure. We have shown DOBE DCM to be inherited as an autosomal dominant trait. In humans, causative genes for familial dilated cardiomyopathy have been identified including cystoskeletal, sarcomeric and mitochondrial genes. We and others have excluded many of these genes as candidates for DOBE DCM. We hypothesized that a genome-wide SNP genotyping array might identify a genetic alteration associated with familial DOBE DCM.
DNA samples from 48 adult DOBEs with DCM (LVDD >4.8 cm and FS < 20%) and 48 apparently unaffected (> 10 years of age, normal physical examination) DOBEs were evaluated with a genome-wide SNP genotyping array. Association analysis suggested an area of statistical significance on canine chromosome 14). Fine-mapping of 13 additional SNPs within the region localized a signal to one strong candidate gene of potential cardiac importance. This gene encodes a mitochondrial protein that contributes to cardiac regulation of glucose metabolism.
Additional DNA sequencing of 121 DOBEs (64 affected, 57 unaffected) identified a 16 base pair deletion in a splice site region in affected dogs (p = < 0.0001). This deletion was also observed in 21/ 57 apparently unaffected DOBEs, but not in any of 100 unaffected dogs of 10 other breeds. Although the deletion was observed in some apparently unaffected dogs, their health status may reflect a later onset or variable penetrance of the disease. Affected dogs were either homozygous or heterozygous for the deletion. The deletion disrupts several splice site enhancer sites and leads to the presumed use of a cryptic splice site within the intron. Electron microscopy of myocardium from affected dogs demonstrated mitochondrial disruption. We conclude that a 16 base pair deletion in a splice site region of a gene encoding for a mitochondrial protein located on chromosome 14 is associated with the development of DCM in at least some DOBE families.


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## Natasha Keating (Apr 8, 2010)

Dr. Meurs presentation on DCM at DPCA Nationals
http://www.ustream.tv/recorded/9997484
Dr. Estrada 
http://www.ustream.tv/recorded/10000682


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