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Bulldog DNA bundle (CMR1 + Cystinuria + DM2 + HUU/SLC + DVL2)
Test number: 8694
Price: £ 132.00 (including VAT) for all 5 tests
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1 ) 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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2 ) 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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3 ) Cystinuria
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Breeds
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Australian Cattle Dog
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Bull Mastiff
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Bulldog (English)
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English Mastiff
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French Bull Dog
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Labrador Retriever
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Landseer
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Mastiff
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Miniature Pinscher
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Newfoundland
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in Newfoundland.
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 |
Cystinuria is an inherited disorder caused by a defective transport of the amino acid cystine in the kidney tubules. Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder.
Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death.
The average age of onset of clinical signs attributable to Cystinuria is about 4.8 years, but in Newfoundlands, signs appear as early as 6 months to 1 year, suggesting that Newfoundlands suffer from a more severe form of the disorder than other breeds.
Treatment of the Disease
Cystinuria in humans and dogs is generally treated with compounds that bind cystine and prevent crystal formation. The two most common drugs of choice are 2-mercaptopropionylglycine (MPG) and D-penicillamine. Little information is available on effective dosages for Newfoundlands, however, at least one study indicated that affected Newfoundlands require higher dosages of MPG than other dogs with Cystinuria. D-penicillamine was found to be of minimal benefit in reducing cystine calculi. This may relate to the fact that Newfoundlands suffer from a more severe form of the disorder than other breeds. Treatment with MPG can, in some cases, result in dissolution of cystine calculi, therefore eliminating the need for surgical removal of the stones. Unfortunately, some Newfoundlands are poorly responsive to medical treatment, suffering from recurring bouts of urinary dysfunction, and, oftentimes, requiring surgery to resolve urinary calculi. In male Mastiff, Continental, English, French and Olde English Bulldogs, we test for the marker which has strong association with the occurrence of Cystinuria. Only intact males which are tested homozygous for the marker are known to show symptoms of the disease. Females are not known to show symptoms. Due to high occurrence of the disease it is not recommended to remove carriers from breeding to avoid compromising the gene pool, but carrier should only be bred with clear animals. In affected dogs which are showing symptoms of the disease, castration can alleviate symptoms. |
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Description |
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PCR
Cystinuria is a well-known hereditary metabolic disorder that leads to the formation of urinary stones and urinary obstruction. It has now been described in over 70 breeds. New studies have shown that this disease is very heterogeneous in terms of inheritance, mutation, frequency, severity, treatment and symptoms. A distinction is now made between the following subtypes of cystinuria affecting the different breeds:
The designation of type I cystinuria is used when the disease shows autosomal recessive inheritance, Type II when inheritance is autosomal dominant, and Type III for sex-limited/androgen-dependent inheritance (PH, UG, unpublished data). Additional types can be assigned if found. Specific mutations within each type should lead to phenotypes that are sufficiently similar that the same medical management and breeding advice applies to all cases within that type. Involvement of the SLC3A1 gene is indicated by adding - A, and similarly addendum of - B indicated involvement of mutations in SLC7A9.
- Newfoundland, Landseer, Labrador: Type I -A - autosomal recessive inheritance
- Miniature Pinscher: Type II - B - autosomal dominant inheritance
- Australian Cattle Dog: Type II - A - dominant inheritance
- Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: Type III - androgen-dependent expression.
The type III genetic test is currently available for the variant which is known to be associated with symptoms of the disease in the Mastiff, Continental, English, French and Olde English Bulldog breeds since December 2016, however, there is currently no test available for Kromfohrländer and Irish Terrier. We test for a marker which is strongly associated with the occurrence of cystinuria. Type III Cystinuria affects only intact male dogs which have two copies of the cystinuria marker (cy/cy). Castration can alleviate the symptoms. Bitches do not show any symptoms but pass on the mutation to offspring.
Prevalence: between 8 and 16% of the dogs are genetically affected, while the carrier rate is between 32 and 50%. Targeted breeding reduces the frequency of the marker associated with the disease and is therefore desirable. Due to the high frequency of the gene, it is advisable that carriers should not taken out of breeding in order maintain the diversity of the gene pool. Dogs (Males or Females) tested Carriers (N/cy) should only be bred with clear dogs (N/N). Bitches tested genetically affected (homozygous for the mutation) (Cy/Cy) should not be removed from breeding but should only be bred with clear dogs (N/N).
Mating with free animals is possible without any problems. The Laboklin team will be happy to answer any further questions you may have.
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Trait of Inheritance |
- in Newfoundland, Landseer, Labrador: autosomal recessive inheritance
- in Miniature Pinscher: autosomal dominant inheritance
- in Australian Cattle Dog: dominant inheritance. In this breed the disease in homozygous dogs (Cy / Cy) is more serious than in heterozygous dogs (N / Cy) .
- In Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: androgen-dependent expression.
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Inheritance : AUTOSOMAL
trait
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4 ) Canine Multi-Focal Retinopathy (CMR 1/2/3)
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Breeds
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American Bulldog
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Australian Shepherd
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Boerboel (South African mastiff)
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Bull Mastiff
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Bulldog (English)
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Cane Corso (Italian)
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Coton de Tulear
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Dogue de Bordeaux (French Mastiff)
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English Mastiff
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Finnish Lapphund
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French Bull Dog
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Pyrenean Mountain Dog (Great Pyrenees)
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Lapponian Herder
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Mastiff
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Miniature American Shepherd
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Perro de Presa Canario (Dogo Canario)
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Swedish Lapp Hund
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The Disease |
Canine Multi-focal Retinopathy (CMR) is a recently identified recessively inherited eye disease observed in a number of dog breeds which is characterised by the presence of numerous distinct (i.e. multi-focal), roughly circular patches of elevated retina with accumulation of material that produces gray-tan-pink colored lesions. These lesions, looking somewhat like blisters, vary in location and size, although typically they are present in both eyes of the affected dog.Discrete areas of tapetal hyper-reflectivity might also be seen.
The disease generally develops in young dogs before 4 months and might progress slowly, might appear to heal, or might even appear and then go away again. Some dogs affected with CMR do not show clinical symptoms of disease until later in life. Some lesions disappear with no remaining sign, while some lesions leave a wrinkled area. Some leave the lasting lesion of a blister formation. Most dogs exhibit no noticeable problem with vision despite their abnormal appearing retinas. And in almost all cases, CMR does not progress significantly over time. The disease seems to have a consistent pattern among the breeds identified so far, although lesions in the Coton de Tulear are often more serious and seem to remain longer than in some of the other CMR-affected breeds. In rare severe cases, the clinical diagnosis could be confused with progressive retinal atrophy (PRA).
Please note that Lapponian Herder can be affected two other forms of PRA, the IFT122-PRA and the prcd PRA |
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Trait of Inheritance |
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autosomal recessive mode
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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 Canine Multi-Focal Retinopathy (CMR 1/2/3). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / CRM [ 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 Canine Multi-Focal Retinopathy (CMR 1/2/3) 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: CRM / CRM [ 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 Canine Multi-Focal Retinopathy (CMR 1/2/3) and will pass the mutant gene to its entire offspring
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5 ) Robinow-like Syndrome ( DVL2 )
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Breeds
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All Dog Breeds
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American Bulldog
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American Pitbull Terrier
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American Staffordshire Terrier
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Boston Terrier
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Bulldog (English)
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Continental Bulldog ( Conti )
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Dogue de Bordeaux (French Mastiff)
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French Bull Dog
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Olde English Bulldogge
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Shih Tzu
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Staffordshire Bull Terrier
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The Disease |
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Robinow-like-Syndrome (DVL2)
With their small size, stubby faces and wide-set eyes, bulldogs, French bulldogs and Boston terriers are among the most popular of domestic dog breeds. Now researchers at the University of California, Davis, School of Veterinary Medicine have found the genetic basis for these dogs’ appearance, and linked it to a rare inherited syndrome in humans.
Genetic variants of the Dishevelled 1 (DVL1) and 3 (DVL3) genes cause the so-called Robinow syndrome in humans , which can be characterized by distinctive facial features (prominent forehead, widely spaced eyes, flat nasal bridge) as well as mesomelic limb shortening (middle parts of limbs are disproportionately short) and cardiac, oral and urogenital anomalies.
English Bulldogs, French Bulldogs and Boston Terriers
In English Bulldogs, French Bulldogs and Boston Terriers, a variant of the DVL2 gene has been found to be fixed (always homozygous for the variant DVL/DVL). This genetic variant leads to altering a protein that affects an important cell-to-cell communication system, which is crucial for tissue development.
The typical phenotype of these breeds includes a wide head, a short muzzle (brachycephaly), widely spaced eyes and a small size. Malformed, fused or lacking caudal vertebrae which leads to truncated and kinked tails, so that the breeds are also called screw tail breeds.
In these three breeds, the DVL2 variant has been found to segregate with the breed defining phenotype as well as thoracic and caudal vertebral malformations in a recessive manner, however, regarding to the thoracic vertebral malformations, the variant seems to have an incomplete and variable penetrance between different breeds. Moreover, the DVL2 variant contributes to the brachycephalic phenotype, in addition to other known genetic variants of the SMCO2 and BMP3 gene. The DVL2 variant could also be linked to other health concerns like the brachycephalic obstructive airway syndrome (BOAS) and congenital heart defects, but this is still part of ongoing research.
In other none-screw tail breeds
Beside the screw tail breeds, the DVL2 variant has also been found homo- or heterozygous in the Pit bull, Staffordshire Bull Terrier, Shih Tzu, American Staffordshire Terrier, Dogues de Bordeaux, Old English Bulldog and American Bulldog. In these breeds, the DVL2 variant seems to be associated with a brachycephalic phenotype and caudal vertebral malformations as well. However, in contrast to the screw tail breeds, the total number of the vertebrae is not reduced and the tail is not completely malformed. Furthermore, no thoracic vertebral malformations have been observed, perhaps due to the variable penetrance of this trait. |
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Price
for the above 5 tests
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£ 132.00 (including VAT)
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