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Gordon Setter DNA bundle (HA+NCL+rcd4-PRA)
Test number: 8741
Price: £ 108.00 (including VAT) for all 3 tests
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1 ) Hereditary Ataxia (HA)
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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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The Disease |
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Hereditary Ataxia (HA) is a neurodegenerative disease that affect the cerebellum causing progressive gait disturbance in both humans and dogs.
Old English Sheepdogs and Gordon Setters suffer from a juvenile onset, autosomal recessive form of canine hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex. The clinical and histological characteristics are similar to hereditary ataxias in humans.
The cause of the disease has been identified, it is a mutation in the gene associated with the process of autophagy by which cell proteins and organelles are removed and recycled and its critical role in maintenance of the continued health of cells is becoming clear. The defect in the autophagy process results in neuronal death. |
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Description |
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The disease is caused by a mutation in the RAB24 gene
Clinical symptomps begins in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI) and histopathological findings include loss of Purkinje cell, granule cell and molecular layer neurons causing atrophy of the cerebellar cortex. In more detailed work on Gordon Setters, profound changes in cerebellar neurotransmitter levels and synapses have been described, along with the development of Purkinje neuron axonal spheroids.
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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). 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) 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) 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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Gordon Setter
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Irish Red and White Setter
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Irish Setter (Red Setter)
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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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£ 108.00 (including VAT)
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