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HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman
new Kennel Club DNA testing schemes with LABOKLIN:
   • Osteochondrodysplasia (OCD) / Skeletal Dwarfism in Miniature Poodles
   • DINGS2: Deafness with Vestibular Dysfunction in Doberman
   • Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Tibetan Terrier DNA bundle (NCL - TT + PLL + rcd4-PRA + PRA3 + DM + PD) Test number: 8679 Price: £ 138.00 (including VAT) for all 6 tests

***1 )* *Neuronal Ceroid Lipofuscinosis ( CL / NCL )***

Breeds

American Bulldog , Border Collie , Cane Corso (Italian) , Chihuahua , Chinese Crested , English Setter , Golden Retriever , Goldendoodle , Gordon Setter , Saluki , Tibetan Terrier .

Kennel Club

This test is part of the Official UK Kennel Club DNA Testing Scheme in Border Collie, English Setter, Saluki, and Tibetan 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 clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.

Trait of Inheritance

Ceroid lipofuscinosis in Border Collies and American Bulldogs 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

Carrier

Genotype: N / NCL [ 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ) 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: NCL / NCL [ 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 Neuronal Ceroid Lipofuscinosis ( CL / NCL ) and will pass the mutant gene to its entire offspring

Description

The mutation-based gene test and its advantages 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.

* Please note 2 different variants can be detected in each of the following breeds: Australian Shepherd and Miniature American Shepherd, Australian Cattle Dog, and Dachshunds, and therefore we have a separate listing combining the two relevant tests for each breed at a discounted price: please check here. We also offer

NCL in American Staffordshire Terrier. which is run by a partner lab

Sample Requirements

Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

Turnaround

2 - 3 weeks

***2 )* *Primary Lens Luxation (PLL)***

Breeds

American Eskimo , American Hairless Terrier , Australian Cattle Dog , Chinese Crested , Danish Swedish Farmdog , Fox Terrier , German Hunting 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.

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

***3 )* *Progressive retinal atrophy ( rcd4-PRA) / LOPRA***

Breeds

Australian Cattle Dog , Cavapoo , Cockapoo (English) , Cockapoo (American) , Dwarf poodle , English Setter , Gordon Setter , Irish Red and White Setter , Irish Setter (Red Setter) , Labradoodle , Miniature Poodle , Old Danish Pointing Dog , Polish Lowland sheepdog , Poodle , Small Munsterlander , Standard Poodle , Tatra Shepherd Dog (POP) , Tibetan Terrier , Toy Poodle .

Kennel Club

This test is part of the Official UK Kennel Club DNA Testing Scheme in English Setter, Gordon Setter, Irish Setter (Red Setter), Standard Poodle, and Tibetan Terrier.

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

Progressive retinal atrophy (PRA) is a major hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated.

One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar. Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic.

The rcd4 PRA is another form of PRA, it is also known as LOPRA (Late Onset PRA) the age of onset of dogs with LOPRA varies from few years of age (2-3 years) up to old age (10-11 years)

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 Progressive retinal atrophy ( rcd4-PRA) / LOPRA. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

Carrier

Genotype: N / rcd4 [ 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 Progressive retinal atrophy ( rcd4-PRA) / LOPRA 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: rcd4 / rcd4 [ 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 Progressive retinal atrophy ( rcd4-PRA) / LOPRA 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

2 - 3 weeks

***4 )* *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), Rough Collie, and Smooth Collie.

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

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

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.

Sample Requirements

Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube

Turnaround

1 - 2 weeks

***5 )* *Dwarfism (Pituitary Dwarfism / Hypopituitarism)***

Breeds

Czechoslovakian Wolfdog , German Shepherd , Karelian Bear Dog , Lapland Reindeer Dog , Lapponian Herder , Saarloos Wolfdog , Tibetan Terrier , White Swiss Shepherd ( Berger Blanc Suisse ) .

Kennel Club

This test is part of the Official UK Kennel Club DNA Testing Scheme in Tibetan Terrier.

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

Inherited Dwarfism is a condition in which the production of the Growth Hormone (GH) is inadequate. Growth hormone is secreted by the pituitary gland and has many effects on the body including control of growth rate, maintenance of hair coat, and bone and teeth development. Affected dogs appear normal at birth, but show evidence of failure to grow by two to three months of age. Symptoms include small stature compared to littermates, retention of puppy coat, hair loss, darkening of the skin, delayed eruption or absence of permanent teeth, a shrill bark, Small testicles and sometimes infertility in the male, Absence of heat and sometimes infertility in the female.

Please note that the mutation which causes Pituitary Dwarfism in Karelian Bear Dog and Lapponian Herder, is different from the mutation which causes Pituitary Dwarfism in German Shepherd, Saarlooswolfdog, Czechoslovakian Wolfdog, Tibetan Terrier and White Swiss Shepherd Dog. We will perform the correct test for the breed.

Clinical Signs

Affected dogs appear normal at birth, but show evidence of failure to grow by two to three months of age. Symptoms include small stature compared to littermates, retention of puppy coat, hair loss, darkening of the skin, delayed eruption or absence of permanent teeth, a shrill bark, Small testicles and sometimes infertility in the male, Absence of heat and sometimes infertility in the female.

Trait of Inheritance

Dwarfism follows an 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 Dwarfism (Pituitary Dwarfism / Hypopituitarism). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

Carrier

Genotype: N / DWARFISM [ 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 Dwarfism (Pituitary Dwarfism / Hypopituitarism) 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: DWARFISM / DWARFISM [ 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 Dwarfism (Pituitary Dwarfism / Hypopituitarism) and will pass the mutant gene to its entire offspring

Description

By DNA testing, the responsible mutation can be shown directly. This method provides a test with a very high accuracy. 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 condition in the breed, as carriers are able to spread the disease in the population.

test will be performed at a partner laboratory.

In German Shepherd, Saarloos, Czech Sheepdog and Tibetan terrier, we test for the mutation in the LHX3-gene, in Karelian Beardog and Lapponian Herder, we test for the mutation in the POU1F1 gene

Sample Requirements

0.5 to 1 ml blood in EDTA tube or Buccal Swabs

Turnaround

2 - 3 weeks

***6 )* *Progressive retinal atrophy ( PRA3 ) in Tibetan Terrier & Tibetan Spaniel***

Breeds

Tibet Spaniel , Tibetan Terrier .

The Disease

Progressive retinal Atrophy ( PRA3 ) is an inherited eye disease affecting Tibetan spaniel and Tibetan Terrier breed. PRA3 is a progressive disease with late onset of symptoms. The disease is characterised by degeneration of both rod and cone photoceptors. Degeneration of rod receptors leads to night blindness and loss of peripheral vision, whereas degeneration of cone photoreceptors results in loss of central vision and eventually complete blindness.

Most PRA cases in the Tibetan Spaniel (TS) are clinically indistinguishable from other forms of PRA. The mode of inheritance appears from pedigree information to be autosomal recessive and the age of diagnosis is relatively late, typically at approximately 5 years of age [19]. No mutations have previously been associated with PRA in the breed.

Although the reported average age of clinical diagnosis in dogs affected with PRA3 is about 4.5-5 years of age, many breeders may delay screening their dogs until they notice obvious signs that their dog has visual problems, by which point the disease is often advanced. It is therefore possible, if not highly likely, that the age of onset of PRA3 is much earlier than the estimated 4.5-5 years.

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 Progressive retinal atrophy ( PRA3 ) in Tibetan Terrier & Tibetan Spaniel. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

Carrier

Genotype: N / PRA3 [ 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 Progressive retinal atrophy ( PRA3 ) in Tibetan Terrier & Tibetan Spaniel 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: PRA3 / PRA3 [ 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 Progressive retinal atrophy ( PRA3 ) in Tibetan Terrier & Tibetan Spaniel and will pass the mutant gene to its entire offspring

Sample Requirements

Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube

Price for the above 6 tests

£ 138.00 (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), Unit 20, Wheel Forge Way, Trafford Park, Manchester, M17 1EH
Buccal swabs and EDTA tubes are available from us free of charge, to order, please use the online form <Request sample collection materials> or email: info@laboklin.co.uk.
If you are sending swab samples, please follow the instructions on this link .