LABOKLIN (UK)| Genetic Diseases | Dogs| Heide Terrier DNA bundle (DM exon2+CNM+LAD+ PLL+ DCM)
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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
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   Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
  DINGS2: Deafness with Vestibular Dysfunction in Doberman
   Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Heide Terrier DNA bundle (DM exon2+CNM+LAD+ PLL+ DCM)

Test number: 8930

Price: £ 138.00 (including VAT) for all 5 tests

  1 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1

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 / Toller) , 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 / Toller), Rhodesian Ridgeback, 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.

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
Description

SOD1-Gene

Please note that Exon 2 can be found in all dog breeds, there is another DM mutation in Exon 1 which can only be found in Bernese Mountain Dog, click here for more information.

For bernese Mountain Dog we have a special offer for both Exon 1 and Exon 2 at reduced price, click here for more details.

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
Turnaround
2-3 weeks

  2 ) Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD)

Breeds
German Hunting Terrier , Great Dane , Heide Terrier , Labradoodle , Labrador Retriever .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Great Dane, and 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.

The Disease
Clinical features of hereditary myopathy in Labrador Retrievers include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance and increased collapse when exposed to cold.
Description

This is a mutation-based gene test, which offers many advantages over other methods

The genetic defect leading to the disease has been identified. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.

IN Great Dane, the disease is caused by a different mutation and is known as Inherited Myopathy of Great Danes (IMGD)

Trait of Inheritance
Hereditary myopathy in Labrador Retrievers is an inherited autosomal recessive trait. This means that a dog can be 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 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 Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CNM [ 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 Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD) 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: CNM / CNM [ 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 Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  3 ) Lethal Acrodematitis ( LAD )

Breeds
Bull Terrier , Heide Terrier , Miniature Bull Terrier .
Description

Lethal Acrodematitis ( LAD ) is an inherited disease affecting the Bull Terriers and Miniature Bull Terriers breeds. The disease is characterised by poor growth, immune deficiency, and skin lesions, especially at the paws.Symptoms includ erythema and adherent scales on the the feet, elbows, hocks and muzzle. Hyperkeratosis of the foot pads is also seen. Immunodeficiency increases susceptibility to microbial infections including skin disease of the face and feet. Signs include stunting, splayed digits and eating difficulties. In older dogs, paronychia, nail disease and hyperkeratosis of the footpads develops, becoming severe in dogs over six months of age.

Puppies suffering from this condition have a greatly reduced lifespan due to infection, and they are often euthanized when the condition becomes very severe and painful.

The disease is caused by a mutation in the MKLN1 gene and a DNA test is now available at Laboklin.

Trait 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 Lethal Acrodematitis ( LAD ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / MKLN1 [ 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 Lethal Acrodematitis ( LAD ) 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: MKLN1 / MKLN1 [ 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 Lethal Acrodematitis ( LAD ) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  4 ) Primary Lens Luxation (PLL)

Breeds
American Eskimo , American Hairless Terrier , Australian Cattle Dog , Chinese Crested , Danish Swedish Farmdog , Fox Terrier , German Hunting Terrier , Heide Terrier , Jack Russell Terrier , Jagd Terrier , Lakeland Terrier , Lancashire Heeler , Lucas Terrier , Miniature Bull Terrier , Norfolk Terrier , Norwich Terrier , Parson Russell Terrier (PRT) , Patterdale Terrier , Pug , Rat Terrier , Sealyham Terrier , Teddy Roosevelt Terrier , Tenterfield Terrier , Tibetan Terrier , Toy Fox Terrier , Volpino Italiano , Welsh Terrier , Westphalia Terrier , Wire-haired Fox Terrier , Yorkshire Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Chinese Crested, Jack Russell Terrier, Lancashire Heeler, Miniature Bull Terrier, Parson Russell Terrier (PRT), Sealyham Terrier, Tibetan Terrier, and Welsh Terrier.

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.

The Disease
The zonula fibres secure the position of the lens. Dogs affected from PLL have painful glaucomas and blindness due to a dislocation of the lens due to a breakdown or disintegration of the zonula fibres. PLL can be inherited or acquired. Therefore the disease might also affect genetically free dogs. First clinical signs of the inherited form of PLL are detectable at the very young age of 20 months. A complete lens luxation typically occurs at the age of 3 to 8 years.
Trait of Inheritance
Recently, Cathryn Mellersh and colleagues (Farias et al., 2010) identified a mutation in the gene ADAMTS17 that is responsible for the development of inherited PLL.

The mode of inheritance of PLL is autosomal recessive. This means that PLL-affected dogs receive one mutated gene (allel) from the mother as well as from the father. Hence, the parents need to carry at least one mutated allel.

In most cases heterozygous carriers are healthy. However, it is estimated that about 2 – 20 % of the carriers will develop PLL.


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.

A dog like this is healthy and does not carry the mutated allel responsible for PLL disease. Offspring of this dog will not get the mutated allel.

 

Carrier

Genotype: N / PLL [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog has one copy of the normal allel and in addition one copy of the mutated allel. Carriers have a low risk of developing PLL, however they will pass on the mutation to their offspring. In most cases heterozygous carriers are healthy. However, it is estimated that about 2 – 20 % of the carriers will develop PLL

 

Affected

Genotype: PLL / PLL [ 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 has two copies of the mutated allel. Affected dogs have a high risk of developing PLL during their lifetime. The mutated allel will be passed to 100% of the offspring. It is recommended to examine the eyes of genetically affected dogs every 6 months by a specialist in order to detect the clinical signs of PLL as early as possible.
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  5 ) Dilated cardiomyopathy ( DCM / JDCM)

Breeds
English Toy Terrier , Manchester Terrier , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Welsh Springer Spaniel .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in English Toy Terrier, and Manchester Terrier.

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.

Description

Dilated cardiomyopathy (DCM) is a disease of the heart muscle in which the left ventricle (the heart's main pumping chamber) becomes dilated and enlarged, causing the heart to weaken and fail to pump blood effectively.

A variant of the phospholamban gene has been found to be associated with symptoms of DCM in the Welsh Springer Spaniel breed, and a DNA test is now available from Laboklin. Phospholamban plays an important role in the regulation of intracellular calcium concentration and therefore in the contraction and relaxation of the heart. Left ventricular dilatation, poor systolic function, arrhythmia and sudden cardiac death are typical symptoms seen in affected dogs. Symptoms usually become apparent by 20 months of age. The disease is inherited as an autosomal dominant trait with variable penetrance. Compared to other canine heart diseases, dilated cardiomyopathy in the Welsh Springer Spaniel has a high penetrance, which means that dogs carrying the variant are very likely to develop the disease when they reach the age of onset.

In Manchester Terrier, the disease is known as Juvenile Dilated Cardiomyopathy (JDCM) and it is found to be associated with an autosomal recessive variant in the cardiac ATP-sensitive potassium channel gene (ABCC9 gene).

DCM can lead to sudden death of the affected dog, usually before the age of 2 years, typically by 6 months. In the acute form, the heart is macroscopically normal, and histopathology shows acute multifocal myocardial degeneration and necrosis without inflammation. In the chronic form, clinical signs such as mild cardiomegaly, left ventricular dilatation, left ventricular wall thickening and left atrial enlargement are common. Other histopathological findings include myocardial degeneration, myocardial fibrosis, mild inflammation and sometimes myocardial mineralisation. The disease is inherited as an autosomal recessive trait. Dogs appear healthy prior to sudden death, with reports of anaesthesia or exercise preceding death in some cases.

In Nova Scotia Duck Tolling Retrievers (NSDTR) the disease is caused by another variant that has recently been identified. In this breed DCM is characterized by decreased systolic function and dilation of one or both ventricles, often leading to heart failure or sudden death

Trait of Inheritance
In Welsh Springer Spaniel, the trait of inheritance is thought to be: autosomal dominant with variable penetrance. Although inheritance is described as autosomal dominant with variable penetrance, but almost all carriers animals show symptoms.

In Manchester Terrier, the trait of inheritane is autosomal recessive and so the dog must inherit two copies of the variant, one from each parent, to be at risk of developing the disease. In Manchester Terrier, it is also known as Juvenile Dilated Cardiomyopathy (JDCM)

In Nova Scotia Duck Tolling Retrievers (NSDTR) the trait of inheritane is predominantly autosomal recessive and so the dog must inherit two copies of the variant, one from each parent, to be at risk of developing the disease. In this breed, carriers may have low penetrance


Inheritance : AUTOSOMAL DOMINANT trait
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks
Price for the above 5 tests
£ 138.00 (including VAT)

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