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LABOKLIN (UK)| Genetic Diseases | Dogs| American Staffordshire Terrier DNA bundle (DM2 + NCL + crd1-PRA + D-Locus + A-locus)
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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
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


American Staffordshire Terrier DNA bundle (DM2 + NCL + crd1-PRA + D-Locus + A-locus)

Test number: 8832

Price: £ 132.00 (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), 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
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

  2 ) 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

  3 ) Progressive Retinal Atrophy (crd1 PRA)

Breed
American Staffordshire Terrier .
The Disease
Early onset retinal degeneration in American Staffordshire Terrier (cone rod dystrophy 1, crd1) is caused by a mutation in the PDE6B gene. Visual impairment can be observed when the dog is less than one year of age with severe blindness by early adulthood
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 Progressive Retinal Atrophy (crd1 PRA). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CRD1 [ 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 (crd1 PRA) 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: CRD1 / CRD1 [ 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 (crd1 PRA) 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 ) Coat Colour: D-Locus D1 ( Dilution / Dilute )

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

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 / Lilac / Lavender 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 blue / grey and brown (liver / chocolate / cocoa / red in border collie) pigment to lilac / isabella / lavender (in Pomeranian). 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, Mudi (Hungarian Mudi) 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.

Please note that dilution (blue, lilac, isabella, etc) is just a colour and that it is not known to be associated with any health conditions

KC

Please note that this test is part of the KC DNA testing scheme in Labrador Retriever. If you would like Laboklin to send the result to the KC, please sign the declaration at the bottom of the form to give us a permission . Please note that the KC will oly publish clear results but would make a note of any result received.


Colour Dilution Alopecia (CDA)

There is no test for CDA and there is no evidence that CDA is caused by dilution

CDA is a genetic recessive inherited condition that causes patches of hair thinning or loss and may also include flaky and/or itchy skin. CDA occurs in dilute dogs (homozygous for the dilute gene d/d) in some breeds, however there is no direct link between CDA and the dilute gene, and there is no evidence that the dilute gene is responsible for CDA. It is though that there are other, not yet identified, genetic factors causing CDA in dilute dogs of some breeds. Any colour can carry CDA but symptoms are only expressed in blue and isabella dogs affected by CDA.

breeding

Since CDA is a recessive gene, it can, in theory, be bred out of most lines by breeding dilute dogs with healthy coats. Breeding healthy dilute dogs with healthy dilute dogs is one way to reduce the occurrence of CDA until testing becomes available.

Breeds known to be affected by CDA:

  • Bernese Mountain Dog
  • Boston Terrier
  • Chihuahua
  • Chow Chow
  • Dachshund
  • Doberman Pinscher
  • Great Dane
  • Irish Setter
  • Italian Greyhound
  • Mudi (Hungarian Mudi)
  • Newfoundland
  • Saluki
  • Schipperke
  • Shetland Sheepdog
  • Standard Poodle
  • Whippet
  • Yorkshire Terrier

 
Further reading
Coat Colour Inheritance Chartshtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1 - 3 weeks

  5 ) Coat Colour: A-Locus Agouti ( fawn, sable, black and tan/tricolor, recessive black)

Update
May 2023: The A locus test has now changed, it is more comprehensive and provides better understanding of the phenotypes caused by variations this gene. It also explains some phenotypes which could not have been explained before.
Breed
All Dog Breeds .
Description

 
Further reading
Coat Colour Inheritance Chartshtml file
Brittany Coat ColoursPDF file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1 - 3 weeks
Price for the above 5 tests
£ 132.00 (including VAT)

To order:




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See also:

 
 
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