LABOKLIN (UK)| Genetic Diseases | Dogs| Nova Scotia Duck Tolling Retriever (NSDTR) DNA bundle (CLPS +CDPA/CDDY + prcd-PRA + CEA + CDMC)
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Nova Scotia Duck Tolling Retriever (NSDTR) DNA bundle (CLPS +CDPA/CDDY + prcd-PRA + CEA + CDMC)

Test number: 8812

Price: £ 138.00 (including VAT) for all 5 tests

  1 ) Cleft Lip / Palate and Syndactyly (CLPS, CP1)

update
the test now detects two variants: CLPS and CP1. Both variants can cause Cleft Lip / Palate and Syndactyly. The price adjuste
Breed
Nova Scotia Duck tolling Retriever ( NSDTR / Toller) .
The Disease
Cleft palate is a hole in the roof of the mouth that occurs during development of the puppy. Affected puppies are born with cleft palate. Cleft Lip is split in the lip and can occur on one or both sides of the mouth. Syndactyly is fusion of the middle two digits of the feet.

Phenotype varies from cleft palate only to cleft lip and cleft palate and in both cases puppies can have syndactyly but don’t always. A case of cleft nose and syndactyly has been reported.

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 Cleft Lip / Palate and Syndactyly (CLPS, CP1). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CLPS [ 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 Cleft Lip / Palate and Syndactyly (CLPS, CP1) 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: CLPS / CLPS [ 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 Cleft Lip / Palate and Syndactyly (CLPS, CP1) 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

  2 ) Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA)

Breeds
All Dog Breeds , American Cocker Spaniel , Basset Hound , Beagle , Bichon Frise , Cavalier King Charles Spaniel , Welsh Corgi (Cardigan) , Chesapeake Bay Retriever , Chihuahua , Coton de Tulear , Dachshund , Dandie Dinmont Terrier , English Springer Spaniel , French Bull Dog , Havanese - Bichon Havanese , Jack Russell Terrier , Miniature Poodle , Miniature Wire haired Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Papillon (Continental Toy Spaniel ) , Pekingese , Pembroke Welsh Corgi , Portuguese Waterdog , Scottish Terrier , Shih Tzu , Toy Poodle , West Highland White Terrier , Welsh Corgi .
Description

Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA)

The test checks for two mutations: CDDY with IVDD Risk, and CDPA, and so you will receive two results, one for each mutation.

Chondrodystrophy CDDY (FGF4-12) which causes short legs and the risk of developing Intervertebral Disc Disease (IVDD).

Chondrodysplasia CDPA (FGF4-18), which causes the short legged phenotype in a number of breeds.

Chondrodystrophy (CDDY with IVDD Risk) is a trait that is common to many dog breeds and it is characterised by shorter legs due to shorter long bones. CDDY can also be associated with Intervertebral Disc Disease (IVDD) due to premature degeneration of the intervertbral disc. The intervertebral disc lie between the vertebrae and it is made of a cartilage which separate vertebrae from each other, absorb shocks and allow slight movement of the vertebrae. In affected dogs, premature calcification of part of the disc at early age (from birth to 1 year of age) results in degeneration of all discs in young dogs. These abnormal discs are susceptible to herniation into the spinal canal where the inflammation, and hemorrhage can cause severe pain and neurological dysfunction. CDDY is inherited as a semi-dominant trait which means that dogs with 2 copies of the mutation are smaller than dogs with only 1 copy. As for IVDD, the inheritance follows a dominant mode, meaning that 1 copy of CDDY mutation is sufficient to predispose dogs to IVDD.

The CDDY mutation has been found in breeds such as: Basset Hound, Beagle, Bichon Frise, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, American Cocker Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, English Springer Spaniel, French Bulldog, Havanese, Jack Russell Terrier, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Poodle (Miniature and Toy), Portuguese Water Dog, Scottish Terrier, Shih Tzu.

The second mutation CDPA explains the short-legged phenotype known as chondrodysplasia (CDPA) in breeds such as Basset Hound, Pembroke Welsh Corgi, Dachshunds, West Highland White Terriers and Scottish Terriers. CDPA inheritance is considered to follow am autosomal dominant mode.

In some breeds both mutations are present and so breeders will be able to plan breeding to reduce occurrence of CDDY, while retaining the short-legged phenotype CDPA.

 
Further reading
FGF4 retrogene on CFA12 is responsible for CDDY and IVDDHTML file
Phenotypic Effects of FGF4 on IVDD (2019)HTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks

  3 ) 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

  4 ) Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) *

Re ISDS: Please note that this test is accepted by the ISDS provided that the sample is collected by a vet who should also sign a sample collection form which can be downloaded from the following link: ISDS DNA Bundle Order Form '
Kennel Club: results of this test is accepted by the Kennel Club
Breeds
Australian Shepherd , Australian Kelpie , Bearded Collie , Border Collie , Boykin Spaniel , Collie , English shepherd , Hokkaido , Lancashire Heeler , Longhaired Whippet , Miniature American Shepherd , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Rough Collie , Shetland Sheepdog (Sheltie) , Silken Windhound , Smooth Collie , Long Haired Whippet .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Australian Shepherd, Bearded Collie, Border Collie, Lancashire Heeler, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, Shetland Sheepdog (Sheltie), 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
Collie Eye Anomaly is an inherited disease with recessive mode of inheritacne which results in abnormal development of the eye's choroid.The disease can be mild or servere, in the mild form of the disease, there is a thinning in the choroid layer of the eye but the dog's vision remains normal, however, dogs with the mild form of the disease can produce severly afected offspring.

In the Severe form of the disease, the dog can suffer serious loss of vision, Colobomas can be seen around and at the optic nerve head as outpouchings in the eye tissue layers. Colobomas may lead to secondary complications such as partial or complete retinal detachments and/or growth of new but abnormal blood vessels with bleeding inside the eye. The disease can affect one or both eyes and can lead to vision loss although this disease rarely lead to complete blindness.

* test performed by partner lab

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 Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) *. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CEA [ 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 Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) * 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: CEA / CEA [ 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 Collie Eye Anomaly (CEA) / Choroidal Hypoplasia (CH) * 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 ) Cerebellar Degeneration and Myositis Complex (CDMC) / Inflammatory Myopathy

Breed
Nova Scotia Duck tolling Retriever ( NSDTR / Toller) .
The Disease
Cerebellar degeneration and myositis complex (CDMC) was first known as inflammatory myopathy, but has now been renamed.
Trait of Inheritance
autosomal recessive 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 Cerebellar Degeneration and Myositis Complex (CDMC) / Inflammatory Myopathy. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CDMC [ 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 Cerebellar Degeneration and Myositis Complex (CDMC) / Inflammatory Myopathy 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: CDMC / CDMC [ 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 Cerebellar Degeneration and Myositis Complex (CDMC) / Inflammatory Myopathy 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
1-3 weeks
Price for the above 5 tests
£ 138.00 (including VAT)

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