LABOKLIN (UK)| Genetic Diseases | Dogs| CKCS Pack B: DM Exon2 + Episodic Falling + DryEye + MD + MTC
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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


CKCS Pack B: DM Exon2 + Episodic Falling + DryEye + MD + MTC

Test number: 8653

Price: £ 138.00 (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
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.

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
Sample Requirements
Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube
Turnaround
2-3 weeks

  2 ) Episodic Falling in Cavalier King Charles Spaniel (EF)

Breeds
Cavalier King Charles Spaniel , Cavapoo .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Cavalier King Charles Spaniel.

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
Episodic Falling is a genetic neurological disorder found in Cavalier King Charles Spaniels. Episodes are usually triggered by exercise, stress or excitement and are characterised by increased muscle tone and stiffness throughout the thoracic and pelvic limbs resulting in a characteristic 'deer-stalking' position and or collapse. The onset of symptoms is usually between fourteen weeks and four years of age but may appear at any age. Clinical symptoms vary in severity ranging from mild, occasional falling to freezing or seizure-like episodes lasting hours. Severity of the episodes can increase or decrease as the dog gets older. There is no standard pattern to the attacks.

The disease is also known as Exercise-Induced Paroxysmal Hypertonicity, Falling Cavaliers and Collapsing Cavalier Syndrome.

Prof. Dr. Robert Harvey of the London School of Pharmacy has recently identified the underlying genetic defect causing Episodic Falling in Cavalier King Charles Spaniels. LABOKLIN have recently implemented the genetic test for this disease under licence from the London School of Pharmacy. This test is currently patented within Europe, with Laboklin as the testing laboratory.

Description

We also have a special offer:

Episodic Falling + Dry Eye and Curly Coat syndrome
LIMITED PERIOD SPECIAL OFFER PRICE ONLY £66 (INCL VAT) FOR BOTH TESTS.

Click here for details OFFER

Trait of Inheritance
Episodic Falling is inherited as a autosomal recessive trait

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 Episodic Falling in Cavalier King Charles Spaniel (EF). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / EF [ 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 Episodic Falling in Cavalier King Charles Spaniel (EF) 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: EF / EF [ 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 Episodic Falling in Cavalier King Charles Spaniel (EF) 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

We will run this test 2 independant times on your sample to ensure that the result is 100% accurate


  3 ) Dry Eye and Curly Coat syndrome (CCS)

Breeds
Cavalier King Charles Spaniel , Cavapoo .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Cavalier King Charles Spaniel.

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
Affected dog puppies suffer from keratoconjunctivitis sicca from eyelid opening, abnormal (rough/curly) coat and are usually smaller than littermates. Footpads are hyper keratinised from young adulthood including nail growth abnormalities and intermittent sloughing, pain and lameness.
Description

We also have a special offer:

Episodic Falling + Dry Eye and Curly Coat syndrome
LIMITED PERIOD SPECIAL OFFER PRICE ONLY £66 (INCL VAT) FOR BOTH TESTS.

Click here for details OFFER

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  4 ) Macrothrombocytopenia ( MTC-D )

Breeds
American Cocker Spaniel , Bichon Frise , Boxer , Cavalier King Charles Spaniel , Cavapoo , Chihuahua , Cocker Spaniel , Dwarf poodle , English Cocker Spaniel , Havanese - Bichon Havanese , Jack Russell Terrier , Labrador Retriever , Maltese , Miniature Poodle , Parson Russell Terrier (PRT) , Poodle , Shih Tzu , Standard Poodle , Toy Poodle .
Description

Macrothrombocytopenia ( MTC ) is inherited as an autosomal dominant trait characterized by low platelet count and the presence of some larger than normal platelets in circulation.

Unlike acquired macrothrombocytopenia (thrombocytopenias secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment.

It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder.

TC ) is inherited as an autosomal dominant trait and results can be Clear (N/N), Affected heterozygous (N / MTC), Affected homozygous (MTC / MTC)

A RECESSIVE form of MTC is found in other breeds click on the following link for further details: Recessive Macrothrombocytopenia (MTC) .

Trait of Inheritance
.

Inheritance : AUTOSOMAL DOMINANT trait
 
Further reading
Macrothrombocytopenia in a Cavalier King Charles SpanielPDF file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  5 ) Muscular Dystrophy (MD)

Breeds
American Staffordshire Terrier , Cavalier King Charles Spaniel , Cavapoo , Golden Retriever , Goldendoodle , Landseer , Norfolk Terrier .
Description

PCR

Muscular dystrophy (MD) in Cavalier King Charles Spaniel, Golden Retriever and Norfolk Terrier is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy. In American Staffordshire Terrier and Landseer, Muscular Dystrophy is inherited as an autosomal recessive trait. Affected dogs exhibit a general, whole body muscular weakness, they move slowly and clumsy and some cannot walk at all. First symptoms in the course of movement appear at the age of three to six month. Affected dogs usualy die between the ages of 4 and 24 months.

Trait of Inheritance
  • X-chromosomal recessive (Cavalier King Charles Spaniel, Golden Retriever, Norfolk Terrier)
  • autosomal recessive (Landseer)

Inheritance : RECESSIVE trait
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price for the above 5 tests
£ 138.00 (including VAT)

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