DNA TESTING

Deafness and Vestibular Syndrome of Dobermans, DVDob, DINGS

Associated with a mutation in the PTPRQ gene. A congenital syndrome of hearing loss and vestibular dysfunction. Its inheritance pattern is suspected to be autosomal recessive and it potentially represents a spontaneous animal model of an autosomal recessive syndromic hearing loss.

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Degenerative Myelopathy, DM

Degenerative myelopathy (DM) is a disease that affects the spinal cord in dogs, causing progressive muscle weakness and loss of coordination. It acts similarly to Lou Gehrig's disease, or ALS (amyotrophic lateral sclerosis), in humans.

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Dilated Cardiomyopathy, DCM1

Genetic testing of the PDK4 gene will reliably determine whether a dog is a genetic Carrier of the PDK4 Mutation associated.

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Dilated Cardiomyopathy, DCM2

DCM2 affects the sarcomeric protein that leads to poor systolic function and sudden death.

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A single affected copy of either gene is necessary to develop symptoms, but not all dogs with DCM1, DCM2, or both mutations will develop disease. Statistics correlate more to disease in American lines of Dobermans than European lines of Dobermans (European dogs have a lower rate of clinical disease).

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Being a carrier does not mean that your dog actively has DCM. Dogs that don't have DCM in their DNA can still go on to be affected by DCM and dogs who showed DCM in their genetic profile can live their entire lives without DCM having ever expressed into the disease. This new testing for DCM1 & DCM2 is supposed to be a piece of the puzzle in understanding DCM however, this disease is complex with varying contributors to the start of the disease process, which can include but is not limited to - environmental, infectious, diet (FDA) & genetics. The new testing does not give a clear indicator on if the disease will express or not. Our stance on DCM is that If one of our breeding pairs carries DCM genetically, we will pair with a mate who is DCM genetically clear. We cannot remove a dog from our breeding program who is a genetic carrier of DCM without definitive proof that DCM absolutely WILL express, when there are multiple mitigating factors to this disease expressing. The COI% for Dobermans is on the higher side for the breed as a whole so to reduce the genetic pool by only breeding DCM genetically clear shrinks the Doberman gene pool further. 

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Narcolepsy

Narcolepsy (Doberman pinscher type) is an inherited disorder affecting Doberman pinschers. The Mutation of the HCRTR2 gene associated with narcolepsy (Doberman pinscher type) has been identified in Doberman pinschers, although its overall frequency in this breed is unknown. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

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Von Willebrand Disease Type I, Type I vWD

The mildest and most common type. People with type 1 VWD have a reduced level of von Willebrand factor in their blood. Type 1 vWD is easily treated.

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Ehlers Danlos

Ehlers-Danlos Syndrome (Doberman Pinscher Type) is an inherited connective tissue disease affecting Doberman Pinschers. Affected dogs present within 8 weeks of age with loose (hypermobile) joints, fragile blood vessels, and excessively elastic skin that is easily torn or bruised and can be stretched beyond limits seen in normal dogs. Dogs may display open wounds or scars from previous injuries and swollen eyes and joints. Dogs are typically euthanized due to the severity of disease and poor quality of life.

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Genetic testing of the ADAMTS2 gene will reliably determine whether a dog is a genetic carrier of Ehlers-Danlos Syndrome (Doberman Pinscher Type). This disease is inherited in an autosomal recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same mutation , there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the ADAMTS2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Doberman pinschers that are not carriers of the mutation have no increased risk of having affected pups.