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LABOKLIN (UK)| Genetic Diseases | Dogs| Spanish Water Dog DNA bundle
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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


Spanish Water Dog DNA bundle

Test number: 8287

Price: £ 138.00 (including VAT) for all 6 tests

  1 ) Brachyury (Bobtail Gene / Short Tail / T-Box)

Breeds
Australian Shepherd , Australian Stumpy tail cattle Dog , Austrian Pinscher , Bourbonnais Pointer (Bourbonnais Pointing Dog) , Bouvier des Ardennes , Brazilian Terrier , Brittany ( Brittany Spaniel ) , Croatian Sheepdog , Danish Farm Dog , Jack Russell Terrier , Karelian Bear Dog , Miniature American Shepherd , Mudi , Polish Lowland sheepdog , Pyrenean Shepherd , Savoy Sheepdog , Schipperke , Spanish Water Dog , Spanish Waterdog , Swedish Farm Dog , Swedish Vallhund , Welsh Corgi .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Schipperke.

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

Bobtail gene: Brachyury / Anury (Bobtail Gene / Short Tail / T-Box)

The spine (or backbone) is made up of a series of small bones called vertebrae. The dog's tail is the last segment of the spine and it is made up of as many as 23 small vertebrae. Normal tail length and number of vertebrae varies considerably in dogs, however, the number within a breed will be the same or may vary by one or two.

Tail length depends on the number of the caudal vertebrae, which can vary significantly between individuals. The bones of the normal tail are bigger at the base and and gradually taper toward the tip, giving the impression of a point.

A natural bobtail is a dog's tail which grows unusually short or is missing completely due to a genetic mutation. A short tail with variable lengths is also referred to as Brachyury , and a complete lack of vertebrae is referred to as Anury In a bobtail, some of the vertebrae are missing; the end of the tail looks somewhat blunt.

The mutation that is responsible for the bobtail phenotype has been identified in many breeds (but not all bobtail breeds), the mutation is in the t-box gene, and a DNA test is available at Laboklin.

The trait of inheritance is autosomal dominant which means that when a dog inherits one copy of the mutation (heterozygous N/T) it will have a natural short tail. Dogs with two copies (homozygous T/T) of the T-Box gene die in womb and reabsorbed resulting in smaller litter size. If puppies are born with two copies of the T-Box, they will have severe anatomical defects including Spina Bifida, which are severe enough to require euthanasia.

The test also helps in identifying if a dog is docked or if it has a natural short tail.

Possible results:

  • N/N (Normal Homozygous for the normal allele): The dog has two copies of the normal gene and will have a normal tail.
  • N/T:(Heterozygous) The dog carries one copy of the normal gene and one copy of the mutant gene; the dog has a natural short tail. Heterozygous dogs can pass the mutation to their offspring with a probability of 50%.
  • T/T (Homozygous for the mutation) (T/T): does not exist and thought to be lethal.

Research found that there is no association between the bobtail mutation and the short tail phenotype in the following breeds:

  • Boston Terrier
  • English Bulldog
  • King Charles Spaniel
  • Miniature Schnauzer
  • Parson Russell Terrier
  • Rottweiler

 
Further reading
Ancestral T-Box Mutationhtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks

  2 ) 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

  3 ) Neuroaxonal Dystrophy ( NAD )

Breeds
Lagotto Romagnolo , Miniature American Shepherd , Papillon (Continental Toy Spaniel ) , Rottweiler , Spanish Water Dog .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Papillon (Continental Toy Spaniel ), and Spanish Water Dog.

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
Neuroaxonal Dystrophy in Spanish Water Dogs is an uncharacterized juvenile-onset genetic disorder that affect Spanish Water Dogs. Affected dogs exhibits various neurological deficits including gait abnormalities and behavioral deficits.

Symptoms include slowly progressing neurological signs starting between six and eleven months of age. Owners of affected dogs reported gait abnormalities, behavioral changes (dullness, nervousness, vocalization) and incontinence alone or in combination with uncontrolled defecation. Mild head tilt, generalized mild cerebellar ataxia with hypermetria of the thoracic limbs and absent to depressed patellar reflexed. Additionally, affected dogs displayed varying degrees of compulsory pacing, proprioceptive deficits, decreased menace, visual deficits, positional nystagmus and decreased muscle tone.

  • in Lagotto Romagnolo and Spanish Water dog, the disease is caused by a mutation in the TECPR2 gene, and
  • in Papillon, the disease is caused by a mutation in the PLA2G6 gene; and
  • in Rottweiler, the disease is caused by a mutation in the VPS11 gene, and
  • in Miniature American Shepherd the disease is also caused by another different mutation.
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 Neuroaxonal Dystrophy ( NAD ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NAD [ 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 Neuroaxonal Dystrophy ( NAD ) 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: NAD / NAD [ 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 Neuroaxonal Dystrophy ( NAD ) 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

  4 ) 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

  5 ) Congenital Hypothyreosis / hypothyroidism ( CHG )

Breeds
Fox Terrier , French Bull Dog , Rat Terrier , Spanish Water Dog , Tenterfield Terrier .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Spanish Water Dog.

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
Hypothyreosis stands for all different kind of thyroid gland sub-function, independent of the origin. A lot of symptoms relate to Hypothyreosis including general symptoms like lethargy or increase in weight, as well as problems concerning heart, skin and nerves. In Spanish Water Dogs sub-function of the thyroid gland can originate from a genetic source. Affected dogs have a very short lifespan and normally die as puppies.
Trait of Inheritance
Autosomal recessive

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 Congenital Hypothyreosis / hypothyroidism ( CHG ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CHG [ 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 Congenital Hypothyreosis / hypothyroidism ( CHG ) 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: CHG / CHG [ 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 Congenital Hypothyreosis / hypothyroidism ( CHG ) 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

  6 ) 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 6 tests
£ 138.00 (including VAT)

To order:




new test:
Androgen Insensitivity Syndrome (AIS)
new test:
ACAN Dwarfism (Chondrodysplasia)
new test:
Predictive Height Test ( LCORL)
new test:

Tractability
new test:
Coat colour Sunshire Dilution



See also:

 
 
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