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Gordon Setter DNA bundle (HA+NCL+rcd4-PRA)
Test number: 8741
Short Name: Gordon Setter DNA bundle (HA+NCL+rcd4-PRA)
Price: £ 120.00 (including VAT) for all 3 tests
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1 ) Hereditary Ataxia (HA) / Cerebellar Ataxia
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Breeds
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Australian Shepherd
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Bobtail
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Gordon Setter
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Miniature American Shepherd
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Norwegian Buhund
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Norwegian Elkhound
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Old English Sheepdog (Bobtail)
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Description |
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Hereditary Ataxia (HA) – Breed-Specific DNA Tests
Hereditary Ataxia (HA) refers to a group of progressive neurological disorders characterised by loss of coordination, hypermetria, intention tremors, and gait abnormalities. Although the clinical signs appear similar across breeds, different genetic variants are responsible in different breeds.
LABOKLIN offers breed-specific HA DNA testing, and we automatically perform the correct variant based on the breed submitted.
General Information
Hereditary Ataxia affects the cerebellum and associated neural pathways, leading to progressive incoordination and mobility problems. Age of onset varies between breeds:
- Old English Sheepdog & Gordon Setter: 6 months – 4 years
- Norwegian Elkhound & Norwegian Buhund: 4 – 20 weeks
- Australian Shepherd & Miniature American Shepherd: 4 – 19 months
Each breed group has its own causative genetic variant, listed below.
Breed-Specific HA Variants We Test For
Hereditary Ataxia – Australian Shepherd & Miniature American Shepherd
Gene: PNPLA8
Variant: PNPLA8-associated HA
Affected dogs typically show hypermetria, bunny-hopping, and a wobbly, stiff pelvic-limb gait between 4 and 19 months. Signs progress to severe mobility impairment by 30–44 months. Histopathology reveals diffuse demyelination.
Hereditary Ataxia – Old English Sheepdog & Gordon Setter
Gene: RAB24
Variant: RAB24-associated HA
Clinical signs appear between 5 months and 4 years. Affected dogs develop progressive cerebellar neurodegeneration leading to significant gait disturbances.
Hereditary Ataxia – Norwegian Elkhound
Gene: HACE1
Variant: HACE1-associated HA
Symptoms begin early, typically between 4 and 20 weeks. Puppies may slip easily, fall over, and show an atypically low tail carriage.
Hereditary Ataxia – Norwegian Buhund
Gene: KCNIP4
Variant: KCNIP4-associated HA
Affected puppies show early-onset ataxia (4–20 weeks), slipping, falling, and reduced tail carriage similar to the Elkhound presentation but caused by a different genetic variant.
Important Notes
Breed-specific testing:
Although these conditions share the name “Hereditary Ataxia,” each breed has its own distinct mutation. When a sample is submitted, LABOKLIN performs the correct variant test based on the breed provided.
For breeds not listed above:
If the breed is not included in the list of recognised HA variants, we will require the specific variant(s) you wish to test for. Each variant is treated as a separate test and charged individually.
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Trait of Inheritance |
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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 Hereditary Ataxia (HA) / Cerebellar Ataxia. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / HA [ 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 Ataxia (HA) / Cerebellar Ataxia 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: HA / HA [ 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 Ataxia (HA) / Cerebellar Ataxia and will pass the mutant gene to its entire offspring
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2 ) Neuronal Ceroid Lipofuscinosis ( CL / NCL )
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Breeds
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American Bulldog
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Border Collie
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Cane Corso (Italian)
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Chihuahua
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Chinese Crested
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English Setter
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Golden Retriever
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Goldendoodle
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Gordon Setter
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Saluki
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Schapendoes (Dutch Sheep Dog)
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Small Swiss Hound
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Tibetan 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 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.
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The Disease |
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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.
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Description |
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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
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Trait of Inheritance |
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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.
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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 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
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3 ) Progressive retinal atrophy ( rcd4-PRA) / LOPRA
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Breeds
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Australian Cattle Dog
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Bolonka Zwetna (Tsvetnaya Bolonki)
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Cavapoo
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Cockapoo (English)
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Cockapoo (American)
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Dwarf poodle
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English Setter
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Goldendoodle
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Gordon Setter
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Irish Red and White Setter
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Irish Setter (Red Setter)
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Japanese Spitz
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Labradoodle
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Miniature Poodle
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Old Danish Pointing Dog
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Polish Lowland sheepdog
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Poodle
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Small Munsterlander
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Standard Poodle
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Tatra Shepherd Dog (POP)
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Tibetan Terrier
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Toy Poodle
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Kennel Club
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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.
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 |
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) |
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Trait of Inheritance |
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Autosomal recessive
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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 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
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Price
for the above 3 tests
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£ 120.00 (including VAT)
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| To order:
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Download
Order Form from this link
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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
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Buccal swabs and EDTA tubes are available from
us free of charge, to order, please use the
online form:
- If
you are sending swab samples, please follow the
instructions on this link .
- Download your copy of the Genetics Tests Catalogue from this link
Our catalogue includes a complete list of all available DNA tests, along with their corresponding test numbers.
- If you have any queries, please contact us on
0161 282 3066
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