LABOKLIN (UK)| Genetic Diseases | Dogs| Shiba Inu DNA bundle (GM1 , GM2 , A Locus and E Locus)
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Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups



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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


Shiba Inu DNA bundle (GM1 , GM2 , A Locus and E Locus)

Test number: 8681

Price: £ 138.00 (including VAT) for all 4 tests

  1 ) GM1-Gangliosidosis

Breeds
Huskies , Portuguese Waterdog , Shiba Inu .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Portuguese Waterdog.

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
GM1-Gangliosidosis in Huskies is a lysosomal storage disease that leads to neurological disorders. Affected dogs suffer from paralysis of the extremities and spasticity of the muscles. At the age of about 8 months most dogs die of this disease.
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.

Trait of Inheritance
GM1-Gangliosidosis in Huskies 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 GM1-Gangliosidosis. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GM1 [ 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 GM1-Gangliosidosis 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: GM1 / GM1 [ 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 GM1-Gangliosidosis 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

  2 ) GM2 Gangliosidosis Variant 0 (Sandhoff Disease)

Breeds
Japanese Chin , Shiba Inu , Toy Poodle .
The Disease
GM2 gangliosidosis is a progressive neurodegenerative Lysosomal Storage disease caused by a recessive mutation. Affected dogs are unable to break down certain enzymes, which are needed to degrade neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues. Accumulation of these metabolites leads to a progressive destruction of the central nervous system. Affected dogs typically exhibit symptoms of neurologic disease around the age of 9 to 12 months. Symptoms include loss of vision, walking difficulties, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progresses rapidly and dogs usually die between the ages of 18 and 23 months.
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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GM2 [ 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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease) 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: GM2 / GM2 [ 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 GM2 Gangliosidosis Variant 0 (Sandhoff Disease) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.

  3 ) 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

  4 ) Coat Colour: E-Locus E1 (yellow, lemon, red, cream and appricot)

Breeds
Afghan Hound , All Dog Breeds , Australian Cattle Dog , Australian Shepherd , Beagle , Border Collie , Brittany ( Brittany Spaniel ) , Welsh Corgi (Cardigan) , Chinese Chow Chow , Cocker Spaniel , Dachshund , Dalmatian , Doberman Pinscher , English Cocker Spaniel , English Setter , English Springer Spaniel , Field Spaniel , Flatcoated Retriever , Foxhound , French Bull Dog , German Longhaired Pointer , German Shepherd , German Wirehaired Pointer , Gordon Setter , Koolie ( Australian Koolie ) , Labrador Retriever , Lowchen , Miniature Schnauzer , Pointer , Pomeranian , Poodle , Pudelpointer .
Description

Coat Colours

As with other mammals, dogs have two major types of pigment in their coat: dark pigment (Eumelanin) which is responsible for black and brown in the pigmented areas, and yellow pigment (Phaeomelanin) which is responsible for red, yellow, orange, golden, cream, apricot in the pigmented areas. The colour varieties seen in dogs are due to genes controlling the amount, extent, and distribution of these two colour pigments.

E-Locus

The E-Locus has a number variants, the 'e1' variant which is responsible for the yellow colours in most breeds, the rare 'e' variants which are repsonsible for the same but in certain breeds, and the special variants 'eA', 'eg' and 'eh' which are responsible for specific colours, some of them occurs only in specific breeds including domino, grizzle, sable and hare-pied. The EM variant is also located at the E-Locus and esponsible for the melanistic mask. This test is only for 'e1' variant.

The 'e1' variant

This test detects the 'e1' variant of the E-Locus, the 'e1' variant is responsible for the red, yellow, orange, golden, cream, apricot coat in the pigmented area in most breeds. The 'e1' variant is recessive which means that two copies of 'e1' (e1/e1) are needed for the dog to be red, yellow, orange, golden, cream, apricot in the pigmented areas. This test number 8018 which is offered in this test as an individual test, however, it is also included in our popular Laboklin Coat Colour Bundle (bundle number 8654)

Australian Cattle Dog

Please note there are additional rare E-Locus variants, which are not analysed in this test. The 'e2' variant is found in Australian Cattle Dog only and therefore for a complete analysis in Australian Cattle Dog, you need to order this test 'e1' in addition to the rare variant test . You can take advantage of our special offer additional coat colour test at half price'.

E-Locus Special colours: 'eA', 'eG' and 'eH'

Testing for these special colours is avaialable in a separate test, for more information check test number 8682 special E-Locus variants 'eA', 'eG' and 'eH'. You can take advantage of our special offer additional coat colour test at half price'.

EM-Locus Melanistic Mask

Testing for Melanistic Mask is available in a separate test, for more information check test number 8146 EM-Locus (Melanistic Mask). You can take advantage of our special offer additional coat colour test at half price'.

Order of dominance: EM> EG> E> EH> e.

 
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 4 tests
£ 138.00 (including VAT)

To order:




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See also:

 
 
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