LABOKLIN (UK)| Genetic Diseases | Dogs| Portuguese Waterdog DNA Bundle ( GM1 + prcd PRA + eo-PRA + Improper Coat)
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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:
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  DINGS2: Deafness with Vestibular Dysfunction in Doberman
   Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel


Portuguese Waterdog DNA Bundle ( GM1 + prcd PRA + eo-PRA + Improper Coat)

Test number: 8514

Price: £ 126.00 (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 ) Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127)

Kennel Club: results of this test is accepted by the Kennel Club
Breeds
All Dog Breeds , American Cocker Spaniel , American Eskimo , Australian Cattle Dog , Australian Shepherd , Australian Stumpy Tail Cattle Dog , Australian Stumpy tail cattle Dog , Barbet (French Water Dog) , Bearded Collie , Bolognese , Bolonka Zwetna (Tsvetnaya Bolonki) , Cavapoo , Chesapeake Bay Retriever , Chihuahua , Chinese Crested , Cockapoo (English) , Cockapoo (American) , Cocker Spaniel , Dwarf poodle , English Cocker Spaniel , English shepherd , Entlebuch Mountain dog , Finnish Lapphund , German Spitz (Mittel) , Giant Schnauzer , Golden Retriever , Goldendoodle , Jack Russell Terrier , Japanese Chin , Karelian Bear Dog , Kuvasz , Labradoodle , Labrador Retriever , Lagotto Romagnolo , Lapponian Herder , Markiesje , Miniature Poodle , Miniature American Shepherd , Norwegian Elkhound , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Parson Russell Terrier (PRT) , Poodle , Portuguese Waterdog , Schipperke , Australian Silky Terrier , Spanish Water Dog , Standard Poodle , Swedish Lapp Hund , Toy Poodle , Waeller (Wäller) , Yorkshire Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in American Cocker Spaniel, Australian Cattle Dog, Australian Shepherd, Barbet (French Water Dog), Chesapeake Bay Retriever, Chinese Crested, Cocker Spaniel, English Cocker Spaniel, Entlebuch Mountain dog, Finnish Lapphund, Giant Schnauzer, Labrador Retriever, Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Portuguese Waterdog, Spanish Water Dog, Standard Poodle, and Toy Poodle.

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
Progressive retinal atrophy (PRA) as an inherited disease occurs in many dog breeds and also in different forms. The form of progressive rod-cone degeneration (prcd-PRA) is a photoreceptor degeneration in dogs with varying ages of onset. This genetic disorder causes the degeneration of retinal cells in the eye: firstly, rod cells are affected, thus leading to progressive night blindness. Secondly, degeneration of the cone cells results in complete blindness of the dog, even in full light situations during the day.

Age of onset of clinical symptoms is typically in early adolescence or early adulthood. However, the onset of the disease may vary among different dog breeds.

Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on prcd-PRA helps to diagnose a specific disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population.

Please note that Lapponian Herder can be affected two other forms of PRA, the IFT122-PRA and the Canine Multi-Focal Retinopathy (CMR) which is caused by a mutation in the BEST1-gene.

Trait of Inheritance
The mutation in the PRCD gene which has been suggested to cause prcd-PRA has recently been published by the group of Gustavo D. Aguirre at the University of Pennsylvania, USA, and could be found in several dog breeds. Prcd-PRA is inherited as an autosomal recessive trait. So there are three conditions a dog can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the prcd-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog.

A dog which has one copy of the PRCD gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by prcd-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs. Dogs that develop this form of PRA have two PRCD gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear dogs..


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 (prcd-PRA): (8094P / 8127). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PRA [ 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 (prcd-PRA): (8094P / 8127) 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: PRA / PRA [ 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 (prcd-PRA): (8094P / 8127) 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

  3 ) Furnishings

Breeds
All Dog Breeds , Barbet (French Water Dog) , Griffon Bruxellois (Brussels Griffon) , Chinese Crested , Dachshund , German Wirehaired Pointer , Havana Silk Dog , Havanese - Bichon Havanese , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Lagotto Romagnolo , Soft Coated Wheaten Terrier , Various dog breeds , Hungarian Wirehaired Vizsla (Vizslak) .
Description

Furnishings refer to the longer facial hair around the eyebrows, moustache, and beard commonly seen in many breeds, including the wirehaired breeds. Presence of furnishings is dominant to the unfurnished version of the gene, which depending on breed may also be referred to as satin, or sleek. LABOKLIN offers a test to see if a furnished dog carries the recessive unfurnished trait.

This coat variant is called 'improper coat' in portuguese waterdogs.

In Hungarian Wirehaired Vizsla (Vizslak) this it is called Wirehair.

 
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

  4 ) Progressive Retinal Atrophy Early Onset (EO-PRA / EOPRA)

Breeds
Portuguese Waterdog , Spanish Water Dog .
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
In addition to prcd PRA, Early-Onset PRA is another form of PRA that has recently been identified in Spanish Water Dog (SWD) and Portuguese Water Dog (PWD). Two new variants have been identified, one found in SWD and another in PWD. These two new forms are characterised by vision problems starting as early as 1.5 years of age. Symptoms continue to progress and by 4.5 years of age, significant sight loss is reported. In Spanish and Portuguese Waterdogs, the following tests are needed:
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks
Price for the above 4 tests
£ 126.00 (including VAT)

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