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Great Swiss Mountain Dog DNA bundle (SLC, P2Y12, MH, DM)
Test number: 8678
Price: £ 138.00 (including VAT) for all 5 tests
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1 ) Hyperuricosuria / Urate Stones (HUU, SLC)
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New Kennel Club DNA testing scheme for HUU in Dalmatian |
The Kennel Club has agreed a new DNA testing scheme for Hyperuricosuria (HUU) / Urate Stone Disorder (USD) in Dalmatian. Under this scheme, HUU test results can be sent by Laboklin to the Kennel Club to be recorded and published only if the submission and testing procedure complies with the following protocol:
- that dogs to be tested are microchipped and registered before the test sample is taken;
- that the test sample (whether buccal swab or EDTA blood sample or other) is taken by a veterinary surgeon or veterinary nurse who first confirms the microchip identity of the test subject and records both the microchip number and registration name on the sample container/package;
- that the sample is sent directly by the veterinary surgery to LABOKLIN.
Copies of all future test certificate results issued by LABOKLIN will only be recorded by the Kennel Club at this time provided they comply with the above protocols.
Please ensure that the veterinary surgeon or veterinary nurse taking the sample complete the vet section on the order form, sign it and stamp it, send it directly to Laboklin and ensure that there stamp is on the package / envelope containing the samples submitted. |
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Breeds
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All Dog Breeds
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Russian Black Terrier ( RBT )
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Bulldog (English)
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Dalmatian
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Giant Schnauzer
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Hungarian Vizsla (Magyar Vizsla / Smooth haired)
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Large Munsterlander
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Spanish Water Dog
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Weimaraner
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Hungarian Wirehaired Vizsla (Vizslak)
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Russian Black Terrier ( RBT ), Bulldog (English), Dalmatian, Large Munsterlander, and Hungarian Wirehaired Vizsla (Vizslak).
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
Hyperuricosuria is characterized by elevated levels of uric acid in the urine. This disease predisposes dogs to form stones in their bladders or sometimes kidneys. The trait can occur in any breed but is most commonly found in the Dalmatian, Bulldog and Black Russian Terrier. The mutation was recently described in Spanish Waterdog (https://www.ncbi.nlm.nih.gov/pubmed/26538670). Here at Laboklin we recently tested an Australian Shepherd as carrier of HUU but we have no information about its prevalence in this breed, and therefore testing recomended if your aussie is showing symptoms of the disease. |
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Trait of Inheritance |
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Hyperuricosuria is inherited as a simple autosomal recessive trait.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Hyperuricosuria / Urate Stones (HUU, SLC). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / SLC2 [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will develop Hyperuricosuria / Urate Stones (HUU, SLC) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%. Carriers should only be bred to clear dogs. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)
Affected
Genotype: SLC2 / SLC2 [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog is likely to develop Hyperuricosuria / Urate Stones (HUU, SLC) and will pass the mutant gene to its entire offspring
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2 ) Postoperative Hemorrhage (P2Y12 / P2RY12)
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Breed
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Great Swiss Mountain Dog
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The Disease |
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Postoperative Hemorrhage is genetic bleeding disorder found in Great Swiss Mountain Dog. It is a disease of the platelets which play important role in the blood clotting process. Platelets are small fragments circulating in the blood, they are the first line of defense in stopping the flow of blood from injured blood vessels. In affected dogs, platelets do not function properly, and therefore affected dogs are at increased risk of spontaneous hemorrhage and at high risk for excessive hemorrhage as a result of injury or surgery and can be life threatening.
Affected dogs appear healthy but Symptoms of spontaneous bleeding can be seen, this includes excessive gingival bleeding during tooth eruption, nose bleeds, and superficial skin bleeds.
The DNA test enables breeders to identify clear, carrier and affected which helps in avoiding breeding affected puppies.
Since this mutation is dominant, carriers are likley to show symptoms of the disease and can pass the mutation to their offspring. |
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3 ) MH (Malignant Hyperthermia)
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The Disease |
Malignant hyperthermia (MH) is an inherited disorder of Malignant hyperthermia (MH) is a pharmacogenetic disorder that manifests upon exposure to volatile anesthetics and depolarizing muscle relaxants.
It is characterized by hypercarbia, rhabdomyolysis, generalized skeletal muscle contracture, cardiac dysrhythmia, and renal failure, which develop on exposure to succinylcholine or volatile anesthetic agents. Symptoms of malignant hyperthermia (MH) in dogs include tachycardia, hyperthermia, elevated carbon dioxide production, and can lead to death if the anesthetic is not discontinued.
The canine syndrome can be treated with specific interventions, such as the use of the calcium release channel antagonist dantrolene, which has been shown to be effective in reversing signs of MH. In most reports of MH in dogs, metabolic acidosis is moderate and muscle rigidity is minimal, in contrast to the severity of both in the swine or human condition. |
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Trait of Inheritance |
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Maligant hyperthermia is transmitted as an autosomal dominant trait. This means that a dog can be genetically clear (also called homozygous normal), heterozygous affected (carries one copy of the defective gene) or homozygous affected (carries two copies of the defective gene) concerning MH. Reliable information of dogs that do not carry disease genes is the key to controlling this disease.
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Inheritance : AUTOSOMAL
DOMINANT
trait
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4 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1
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Breeds
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Airedale Terrier
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Alaskan Malamute
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All Dog Breeds
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American Eskimo
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Bernese Mountain Dog
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Bloodhound
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Borzoi (Russian Wolfhound)
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Boxer
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Cavalier King Charles Spaniel
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Canaan Dog
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Welsh Corgi (Cardigan)
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Chesapeake Bay Retriever
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Cockapoo (English)
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Cockapoo (American)
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Fox Terrier
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French Bull Dog
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German Shepherd
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Glen Of Imaal Terrier ( GIT )
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Golden Retriever
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Goldendoodle
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Pyrenean Mountain Dog (Great Pyrenees)
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Hovawart
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Pumi ( Hungarian Pumi / Pumik )
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Jack Russell Terrier
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Kerry Blue Terrier
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Labradoodle
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Labrador Retriever
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Lakeland Terrier
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Northern Inuit (Tamaskan / British Timber Dog)
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Nova Scotia Duck tolling Retriever ( NSDTR / Toller)
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Pembroke Welsh Corgi
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Poodle
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Pug
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Rhodesian Ridgeback
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Rough Collie
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Soft Coated Wheaten Terrier
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Shetland Sheepdog (Sheltie)
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Smooth Collie
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Utonagan
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Wire Fox Terrier
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Chesapeake Bay Retriever, French Bull Dog, German Shepherd, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, and Smooth Collie.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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The Disease |
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Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008 the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis.
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Clinical Signs |
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Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia.
Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years
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Trait of Inheritance |
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Tow alleles are invloved in Degenerative Myelopathy, A and G, therefore a test result can be A/A, A/G, or G/G.
Mode of inheritance is autosomal recessive with variable penetrance;
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will show signs of the Degenerative Myelopathy
Carrier
Genotype: N / DM (Exon 2) [ Heterozygous ]
The dog carries one copy of the mutant gene and one
copy of the normal gene.
It is very unlikely that the dog will show signs of the Degenerative Myelopathy
Affected
Genotype: DM (Exon 2) / DM (Exon 2) [ Homozygous mutant ]
The dog carries two copies of the mutant gene and
therefore it will pass the mutant gene to its entire offspring.
The dog may or may not show signs of the disease
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5 ) Coat Colour: D-Locus D1 ( Dilution / Dilute )
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Breeds
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All Dog Breeds
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Border Collie
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Boston Terrier
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Bulldog (English)
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Chihuahua
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Doberman Pinscher
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French Bull Dog
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German Pinscher
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Koolie ( Australian Koolie )
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Labrador Retriever
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Large Munsterlander
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Miniature Pinscher
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Newfoundland
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Rhodesian Ridgeback
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Staffordshire Bull Terrier
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Labrador Retriever.
for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published
as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s
microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying
features will not be recorded by the Kennel Club.
In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.
important:
When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.
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Description |
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The D locus is the primary locus associated with diluted pigment, which results in coats that would otherwise be black or brown instead showing up as gray, or blue in the case of black, and pale brown or Isabella / Lilac / Lavender in the case of brown. The melanophilin gene has recently been shown to be responsible, but not all of the dilute causing mutations have been identified yet.
A recessive mutation in the melanophilin gene was identified as the cause of colour dilution phenotypes in the dog. Two alleles (variants) are described: the dominant full colour (D) and the recessive dilute (d). Two copies of dilute are needed to lighten black pigment to blue / grey and brown (liver / chocolate / cocoa / red in border collie) pigment to lilac / isabella / lavender (in Pomeranian). A diagnostic DNA test identifies the specific variants of the MLPH gene.
Please note that in the Chow Chow, Thai Ridgeback and Sloughi breeds, there is another mutation that can cause coat colour dilution, it is the D2 Locus mutation and in those breeds both D1 Locus and D2 Locus mutations must be tested for complete analysis.
Please note that in the Chihuahua, Italian Greyhound, Mudi (Hungarian Mudi) and Hungarian Pumi breeds, there is another mutation that can cause coat colour dilution, it is the D3 Locus mutation and in those breeds both D 1Locus and D3 Locus mutations must be tested for complete analysis.
Please note that dilution (blue, lilac, isabella, etc) is just a colour and that it is not known to be associated with any health conditions
KC
Please note that this test is part of the KC DNA testing scheme in Labrador Retriever. If you would like Laboklin to send the result to the KC, please sign the declaration at the bottom of the form to give us a permission . Please note that the KC will oly publish clear results but would make a note of any result received.
Colour Dilution Alopecia (CDA)
There is no test for CDA and there is no evidence that CDA is caused by dilution
CDA is a genetic recessive inherited condition that causes patches of hair thinning or loss and may also include flaky and/or itchy skin. CDA occurs in dilute dogs (homozygous for the dilute gene d/d) in some breeds, however there is no direct link between CDA and the dilute gene, and there is no evidence that the dilute gene is responsible for CDA. It is though that there are other, not yet identified, genetic factors causing CDA in dilute dogs of some breeds. Any colour can carry CDA but symptoms are only expressed in blue and isabella dogs affected by CDA.
breeding
Since CDA is a recessive gene, it can, in theory, be bred out of most lines by breeding dilute dogs with healthy coats. Breeding healthy dilute dogs with healthy dilute dogs is one way to reduce the occurrence of CDA until testing becomes available.
Breeds known to be affected by CDA:
- Bernese Mountain Dog
- Boston Terrier
- Chihuahua
- Chow Chow
- Dachshund
- Doberman Pinscher
- Great Dane
- Irish Setter
- Italian Greyhound
- Mudi (Hungarian Mudi)
- Newfoundland
- Saluki
- Schipperke
- Shetland Sheepdog
- Standard Poodle
- Whippet
- Yorkshire Terrier
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Price
for the above 5 tests
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£ 138.00 (including VAT)
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