|
Landseer DNA bundle (Cystinuria + DM2 + D-Locus (D1) + MD + Thrombopathia)
Test number: 8646
Price: £ 156.00 (including VAT) for all 5 tests
|
|
|
|
|
|
1 ) Cystinuria
|
|
Breeds
|
|
Bull Mastiff
,
Bulldog (English)
,
English Mastiff
,
French Bull Dog
,
Labrador Retriever
,
Landseer
,
Mastiff
,
Newfoundland
.
|
|
|
|
Kennel Club
|
|
This test is part of the Official UK Kennel Club DNA Testing Scheme in Newfoundland.
|
|
|
|
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. |
|
|
|
|
Trait of Inheritance |
|
Cystinuria in Newfoundlands and Landseer is an inherited autosomal recessive trait. This means that a dog can be genetically clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.
|
Inheritance : AUTOSOMAL
R`ECESSIVE
trait
|
|
|
|
Description |
|
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 I - 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 has been available for the breeds Mastiff, Continental, English, French and Olde English Bulldogs since December 2016. 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 Labogen team will be happy to answer any further questions you may have.
|
|
|
|
| |
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
| |
|
2 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2)
|
|
Breeds
|
|
Airedale Terrier
,
Alaskan Malamute
,
All Dog Breeds
,
American Eskimo
,
Bernese Mountain Dog
,
Bloodhound
,
Borzoi (Russian Wolfhound)
,
Boxer
,
Cavalier King Charles Spaniel
,
Canaan Dog
,
Welsh Corgi (Cardigan)
,
Chesapeake Bay Retriever
,
Cockapoo (English)
,
Cockapoo (American)
,
Fox Terrier
,
French Bull Dog
,
German Shepherd
,
Glen Of Imaal Terrier ( GIT )
,
Golden Retriever
,
Goldendoodle
,
Pyrenean Mountain Dog (Great Pyrenees)
,
Hovawart
,
Pumi ( Hungarian Pumi / Pumik )
,
Jack Russell Terrier
,
Kerry Blue Terrier
,
Labradoodle
,
Labrador Retriever
,
Lakeland Terrier
,
Northern Inuit (Tamaskan / British Timber Dog)
,
Nova Scotia Duck tolling Retriever ( NSDTR )
,
Pembroke Welsh Corgi
,
Poodle
,
Pug
,
Rhodesian Ridgeback
,
Rough Collie
,
Soft Coated Wheaten Terrier
,
Shetland Sheepdog (Sheltie)
,
Smooth Collie
,
Utonagan
,
Wire Fox Terrier
.
|
|
|
|
Kennel Club
|
|
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 ) , Rough Collie , and Smooth Collie.
|
|
|
|
The Disease |
|
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.
|
|
|
|
|
Clinical Signs |
|
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
|
|
|
|
Trait of Inheritance |
|
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;
|
Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
|
|
Dam
|
|
Offspring
|
| |
|
|
|
|
|
clear
|
 |
clear
|
 |
100% clear
|
| |
|
|
|
|
|
clear
|
|
carrier
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
clear
|
|
affected
|
|
100% carriers
|
| |
|
|
|
|
|
carrier
|
|
clear
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
carrier
|
|
carrier
|
|
25% clear + 25% affected
+ 50% carriers
|
| |
|
|
|
|
|
carrier
|
|
affected
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
clear
|
|
100% carriers
|
| |
|
|
|
|
|
affected
|
|
carrier
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
affected
|
|
100% affected
|
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
|
|
|
| |
|
Sample Requirements |
Buccal swabs or 0.5 - 1 ml blood in EDTA Blood Tube . |
|
|
| |
|
3 ) Coat Colours: D-Locus D1 ( Dilution )
|
|
Breeds
|
|
All Dog Breeds
,
Border Collie
,
Boston Terrier
,
Bulldog (English)
,
Chihuahua
,
Doberman Pinscher
,
French Bull Dog
,
German Pinscher
,
Koolie ( Australian Koolie )
,
Labrador Retriever
,
Large Munsterlander
,
Miniature Pinscher
,
Newfoundland
,
Rhodesian Ridgeback
,
Staffordshire Bull Terrier
.
|
|
|
|
Description |
|
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 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 grey (often called blue) and red pigment to cream (also called buff). 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 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.
|
|
|
|
| |
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
| |
|
4 ) Muscular Dystrophy (MDL)
|
| |
|
The Disease |
|
Clinical signs start at a few weeks of age, affected dogs suffers severe progressive muscle weakness that can lead to euthanasia between 5 and 15 months of age.
|
|
|
|
|
Trait of Inheritance |
|
Autosomal Recessive
|
Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
|
|
Dam
|
|
Offspring
|
| |
|
|
|
|
|
clear
|
|
clear
|
|
100% clear
|
| |
|
|
|
|
|
clear
|
|
carrier
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
clear
|
|
affected
|
|
100% carriers
|
| |
|
|
|
|
|
carrier
|
|
clear
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
carrier
|
|
carrier
|
|
25% clear + 25% affected
+ 50% carriers
|
| |
|
|
|
|
|
carrier
|
|
affected
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
clear
|
|
100% carriers
|
| |
|
|
|
|
|
affected
|
|
carrier
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
affected
|
|
100% affected
|
Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Muscular Dystrophy (MDL). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / MD [ 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 Muscular Dystrophy (MDL) 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: MD / MD [ 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 Muscular Dystrophy (MDL) and will pass the mutant gene to its entire offspring
|
|
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
| |
|
5 ) Thrombopathia (Thrombopathy)
|
|
Breeds
|
|
Basset Hound
,
Landseer
.
|
|
|
|
The Disease |
 |
|
Thrombopathia (Thrombopathy) is an inherited disease found in Basset Hound and Landseer. It affects the blood ability to stop bleeding from damaged / injured blood vessels.
Thrombocytes (Platelets) are small blood cells that respond to damage or injury of blood vessels by sticking to each other at the damaged site to plug holes until blood clotting and tissue repair can occur. In affected dogs, thrombocytes fail to respond to the damage in the blood vessel and therefore thrombocyte clumping does not occur. Affected dogs are at increased risk of spontaneous hemorrhage and also at high risk of excessive hemorrhage following an injury or surgery.
|
|
|
|
|
Clinical Signs |
|
Symptoms include spontaneous bleeding on the mucosal surfaces such as the gum and the nose, and skin bruising. Gastrointestinal bleeding which may or may not be apparent, and bleeding in the urinary tract.
|
|
|
|
Trait of Inheritance |
|
Autosomal recessive mode of inheritance
|
Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
|
|
Dam
|
|
Offspring
|
| |
|
|
|
|
|
clear
|
|
clear
|
|
100% clear
|
| |
|
|
|
|
|
clear
|
|
carrier
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
clear
|
|
affected
|
|
100% carriers
|
| |
|
|
|
|
|
carrier
|
|
clear
|
|
50% clear + 50%
carriers
|
| |
|
|
|
|
|
carrier
|
|
carrier
|
|
25% clear + 25% affected
+ 50% carriers
|
| |
|
|
|
|
|
carrier
|
|
affected
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
clear
|
|
100% carriers
|
| |
|
|
|
|
|
affected
|
|
carrier
|
|
50% carriers + 50%
affected
|
| |
|
|
|
|
|
affected
|
|
affected
|
|
100% affected
|
Clear
Genotype: N / N [ Homozygous normal ]
The dog is noncarrier of the mutant gene.
It is very unlikely that the dog will develop Thrombopathia (Thrombopathy). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / Thrombopathia [ 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 Thrombopathia (Thrombopathy) 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: Thrombopathia / Thrombopathia [ 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 Thrombopathia (Thrombopathy) and will pass the mutant gene to its entire offspring
|
|
|
|
Sample Requirements |
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal swabs. . |
|
|
| |
|
Price
for the above 5 tests
|
|
£ 156.00 (including VAT)
|
|
|
 |
| To order:
-
Download
Order Form from this link 
-
Complete the order form and send it together
with your samples to the following address:
Laboklin (UK), 125 Northenden Road, Manchester, M33 3HF
|
|
|
|
|
