LABOKLIN (UK)| Genetic Diseases | Dogs| Pack B: MCD+Cystinuria+Narcolepsy+Obesity+PK+SLC+STGD+XL-MTM
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Maine Coon Special offer:
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Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs) 
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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


Pack B: MCD+Cystinuria+Narcolepsy+Obesity+PK+SLC+STGD+XL-MTM

Test number: 8628

Price: £ 138.00 (including VAT) for all 8 tests

  1 ) Macular Corneal Dystrophy ( MCD / CHST6 )

Breed
Labrador Retriever .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Labrador Retriever.

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

Macular Corneal Dystrophy (MCD) is an inherited eye disease affecting humans and dogs. The disease characterized by progressive diffuse cloudiness of the cornea and the presence of grayish-white spots in the superficial corneal stroma. The disease is caused by a mutation in the CHST6 gene which causes abnormal accumulation of complex carbohydrates called glycosaminoglycans in the cornea, mainly in the keratocytes and the corneal epithelium.

Clinical symptoms are usually seen in affected middle aged dogs, and include: Visual impairment, corneal cloudiness, grey-white spots of various sizes on the cornea, blood vessels maybe seen across the corneal surface, increased intensity of the corneal cloudiness and loss of visual acuity.

This mutation has only been reported in Labrador Retrievers, but may be found in Labrador-cross breeds.

Treatment: in dogs there is no treatment. In human, this is treated by corneal transplant.

Trait of Inheritance
Trait of inheritance is recessive, which means that the dog must inherit two copies of the mutation to be genetically affected. Clears and carriers cannot develop the disease due to recessive mode of inheritance. Carriers can pass the mutation to 50 % of their offspring.

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 Macular Corneal Dystrophy ( MCD / CHST6 ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / MCD [ 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 Macular Corneal Dystrophy ( MCD / CHST6 ) 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: MCD / MCD [ 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 Macular Corneal Dystrophy ( MCD / CHST6 ) and will pass the mutant gene to its entire offspring
 
Further reading
(CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador RetrieversPDF file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  2 ) Cystinuria

Breeds
Australian Cattle Dog , Bull Mastiff , Bulldog (English) , English Mastiff , French Bull Dog , Labrador Retriever , Landseer , Mastiff , Miniature Pinscher , Newfoundland .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Newfoundland.

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
Cystinuria is an inherited disorder caused by a defective transport of the amino acid cystine in the kidney tubules. Normally, cystine is filtered in the kidney and reabsorbed within the tubules, resulting in little cystine in the urine. Dogs with Cystinuria do not properly reabsorb the cystine (and a few other amino acids) in the kidney tubules, causing the urine to contain abnormally high levels of cystine. Cystine is insoluble in neutral pH or acidic urine, so excess urinary cystine results in the formation of crystals, which in turn can lead to formation of cystine calculi (stones) in the kidney and/or the bladder. Dogs suffering from Cystinuria suffer repeated urinary tract inflammations, and are at risk for urinary blockage, which can, if not treated promptly, lead to kidney failure, bladder rupture, and death. The average age of onset of clinical signs attributable to Cystinuria is about 4.8 years, but in Newfoundlands, signs appear as early as 6 months to 1 year, suggesting that Newfoundlands suffer from a more severe form of the disorder than other breeds.
Treatment of the Disease
Cystinuria in humans and dogs is generally treated with compounds that bind cystine and prevent crystal formation. The two most common drugs of choice are 2-mercaptopropionylglycine (MPG) and D-penicillamine. Little information is available on effective dosages for Newfoundlands, however, at least one study indicated that affected Newfoundlands require higher dosages of MPG than other dogs with Cystinuria. D-penicillamine was found to be of minimal benefit in reducing cystine calculi. This may relate to the fact that Newfoundlands suffer from a more severe form of the disorder than other breeds. Treatment with MPG can, in some cases, result in dissolution of cystine calculi, therefore eliminating the need for surgical removal of the stones. Unfortunately, some Newfoundlands are poorly responsive to medical treatment, suffering from recurring bouts of urinary dysfunction, and, oftentimes, requiring surgery to resolve urinary calculi.

In male Mastiff, Continental, English, French and Olde English Bulldogs, we test for the marker which has strong association with the occurrence of Cystinuria. Only intact males which are tested homozygous for the marker are known to show symptoms of the disease. Females are not known to show symptoms. Due to high occurrence of the disease it is not recommended to remove carriers from breeding to avoid compromising the gene pool, but carrier should only be bred with clear animals. In affected dogs which are showing symptoms of the disease, castration can alleviate symptoms.

Description

PCR

Cystinuria is a well-known hereditary metabolic disorder that leads to the formation of urinary stones and urinary obstruction. It has now been described in over 70 breeds. New studies have shown that this disease is very heterogeneous in terms of inheritance, mutation, frequency, severity, treatment and symptoms. A distinction is now made between the following subtypes of cystinuria affecting the different breeds:

The designation of type I cystinuria is used when the disease shows autosomal recessive inheritance, Type II when inheritance is autosomal dominant, and Type III for sex-limited/androgen-dependent inheritance (PH, UG, unpublished data). Additional types can be assigned if found. Specific mutations within each type should lead to phenotypes that are sufficiently similar that the same medical management and breeding advice applies to all cases within that type. Involvement of the SLC3A1 gene is indicated by adding - A, and similarly addendum of - B indicated involvement of mutations in SLC7A9.

  • Newfoundland, Landseer, Labrador: Type I -A - autosomal recessive inheritance
  • Miniature Pinscher: Type II - B - autosomal dominant inheritance
  • Australian Cattle Dog: Type II - A - dominant inheritance
  • Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: Type III - androgen-dependent expression.
The type III genetic test is currently available for the variant which is known to be associated with symptoms of the disease in the Mastiff, Continental, English, French and Olde English Bulldog breeds since December 2016, however, there is currently no test available for Kromfohrländer and Irish Terrier. We test for a marker which is strongly associated with the occurrence of cystinuria. Type III Cystinuria affects only intact male dogs which have two copies of the cystinuria marker (cy/cy). Castration can alleviate the symptoms. Bitches do not show any symptoms but pass on the mutation to offspring.

Prevalence: between 8 and 16% of the dogs are genetically affected, while the carrier rate is between 32 and 50%. Targeted breeding reduces the frequency of the marker associated with the disease and is therefore desirable. Due to the high frequency of the gene, it is advisable that carriers should not taken out of breeding in order maintain the diversity of the gene pool. Dogs (Males or Females) tested Carriers (N/cy) should only be bred with clear dogs (N/N). Bitches tested genetically affected (homozygous for the mutation) (Cy/Cy) should not be removed from breeding but should only be bred with clear dogs (N/N). Mating with free animals is possible without any problems. The Laboklin team will be happy to answer any further questions you may have.

Trait of Inheritance
  • in Newfoundland, Landseer, Labrador: autosomal recessive inheritance
  • in Miniature Pinscher: autosomal dominant inheritance
  • in Australian Cattle Dog: dominant inheritance. In this breed the disease in homozygous dogs (Cy / Cy) is more serious than in heterozygous dogs (N / Cy) .
  • In Mastiff, Bulldogs, Kromfohrländer and Irish Terrier: androgen-dependent expression.

Inheritance : AUTOSOMAL trait
 
Further reading
Canine cystinuriaHTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  3 ) Narcolepsy

Breeds
Dachshund , Doberman Pinscher , Labrador Retriever .
The Disease
Narcolepsy is a disabling sleep disorder affecting humans and animals. The disease is characterized by daytime sleepiness, cataplexy and striking transitions from wakefulness into REM sleep. A mutation in the gene encoding the receptor for hypocretin (orexin) receptor 2 was identified as the cause for canine narcolepsy.
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
Narcolepsy 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 Narcolepsy. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / NARC [ 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 Narcolepsy 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: NARC / NARC [ 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 Narcolepsy 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 ) Obesity / Adiposity ( ADI )

Breeds
Flatcoated Retriever , Labrador Retriever .
Description

A genetic mutation is respobsible for increased appetite and weight gain in Labrador and Flat-Coated retriever. It is well known that labradors are more motivated by food and are more prone to obesity than other breeds. Researchers at the University of Cambridge found that a deletion in the POMC gene is associated with with Weight, Adiposity, and Food Motivation in Labrador Retrievers, this mutation was also identified in Flat-Coated retrievers and associated with the same symptoms. A DNA test is now available at Laboklin to test for the mutation.

Trait of Inheritance
this is not a Mandelian trait

Inheritance : trait
 
Further reading
Fat Labradors give clues TO Obesity ..HTML file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks

  5 ) PK Deficiency (Pyruvate Kinase Deficiency)

Breeds
Basenji , Beagle , Cairn Terrier , Labrador Retriever , Pug , West Highland White Terrier .
The Disease
Pyruvate kinase (PK) is an enzyme critical to the anaerobic glycolytic pathway of energy production in the erythrocyte. If erythrocytes are deficient in PK they are unable to sustain normal cell metabolism and hence are destroyed prematurely. This deficiency manifests as an hemolytic anemia of variable severity with a strong regenerative response. In dogs, the anemia is always severe (PCV 10-20%) whereas in cats the anemia shows a regenerative response. Also associated with the disease in dogs but not cats is a progressive myelofibrosis and osteosclerosis of unknown etiology and this feature, along with liver failure, is the major cause of death in affected dogs. The life expectancy of affected dogs is shortened and most die before 4 years of age. PK deficiency has been recognized in both dogs and cats. The dog breeds involved are the Basenji, Beagle, Dachshund, Eskimo, West Highland White Terriers and the Beagle. In cats, PK deficiency has been described in Abyssinian and Somali cats, as well as DSH cats. The feline disease differs from the canine disease in that affected cats can have a normal life span, only intermittently have anemia, and do not seem to develop either osteosclerosis or liver failure. In all breeds the disease is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and lead normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals be detected prior to breeding. PK deficiency can be detected, using molecular genetic testing techniques, in the Basenji, Beagle, Pug, Labrador Retriever, West Highland White and Cairn Terriers and the Beagle. These tests identify both affected and carrier animals. It is also possible to identify animals deficient in PK activity through enzyme analysis in those breeds where a molecular genetic test is not available.
Clinical Signs
The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly. The anemia is macrocytic, hypochromic and highly regenerative in dogs. Radiographs reveal generalized abnormalities in bone density including intramedullary mineralisation of the long bones suggestive of progressive osteosclerosis in dogs.
Trait of Inheritance
PK Deficiency is inherited in an 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 PK Deficiency (Pyruvate Kinase Deficiency). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PK [ 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 PK Deficiency (Pyruvate Kinase Deficiency) 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: PK / PK [ 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 PK Deficiency (Pyruvate Kinase Deficiency) 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 ) Hyperuricosuria / Urate Stones (HUU, SLC)

New Kennel Club DNA testing scheme for HUU in Dalmatian
The Kennel Club has agreed a new DNA testing scheme for Hyperuricosuria (HUU) / Urate Stone Disorder (USD) in Dalmatian. Under this scheme, HUU test results can be sent by Laboklin to the Kennel Club to be recorded and published only if the submission and testing procedure complies with the following protocol:
  • that dogs to be tested are microchipped and registered before the test sample is taken;
  • that the test sample (whether buccal swab or EDTA blood sample or other) is taken by a veterinary surgeon or veterinary nurse who first confirms the microchip identity of the test subject and records both the microchip number and registration name on the sample container/package;
  • that the sample is sent directly by the veterinary surgery to LABOKLIN.

    Copies of all future test certificate results issued by LABOKLIN will only be recorded by the Kennel Club at this time provided they comply with the above protocols.

    Please ensure that the veterinary surgeon or veterinary nurse taking the sample complete the vet section on the order form, sign it and stamp it, send it directly to Laboklin and ensure that there stamp is on the package / envelope containing the samples submitted.

Breeds
All Dog Breeds , Russian Black Terrier ( RBT ) , Bulldog (English) , Dalmatian , Giant Schnauzer , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Large Munsterlander , Spanish Water Dog , Weimaraner , Hungarian Wirehaired Vizsla (Vizslak) .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Russian Black Terrier ( RBT ), Bulldog (English), Dalmatian, Large Munsterlander, and Hungarian Wirehaired Vizsla (Vizslak).

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
Hyperuricosuria is characterized by elevated levels of uric acid in the urine. This disease predisposes dogs to form stones in their bladders or sometimes kidneys. The trait can occur in any breed but is most commonly found in the Dalmatian, Bulldog and Black Russian Terrier. The mutation was recently described in Spanish Waterdog (https://www.ncbi.nlm.nih.gov/pubmed/26538670).

Here at Laboklin we recently tested an Australian Shepherd as carrier of HUU but we have no information about its prevalence in this breed, and therefore testing recomended if your aussie is showing symptoms of the disease.

Trait of Inheritance
Hyperuricosuria is inherited as a simple 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 Hyperuricosuria / Urate Stones (HUU, SLC). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / SLC2 [ 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 Hyperuricosuria / Urate Stones (HUU, SLC) 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: SLC2 / SLC2 [ 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 Hyperuricosuria / Urate Stones (HUU, SLC) 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

  7 ) X-linked Myotubular Myopathy (XLMTM)

Breeds
Labrador Retriever , Rottweiler .
The Disease
Myotubular Myopathy is sex-linked inherited muscle disease that occurs in Labrador Retriever and Rottweiler. Symptoms are similar to Centronuclear Myopathy (CNM) / Hereditary Myopathy.

Affected puppies appear normal at birth but they start showing symptoms between 7 and 19 weeks of age. Symptoms include progressive skeletal muscle atrophy, muscle weakness especially in the hind limbs, small stature compared to unaffected littermates, puppies can walk with short choppy strides, collapsing after few strides, difficulty eating due to weakness in mastication muscles, which may lead to dropped jaws, hoarse bark.

The disease progresses rapidly and puppies become unable to stand or raise their heads by 3-4 weeks after the start of the symptoms.

Affected dogs are usually euthanized between 15-26 weeks of age.

Due to the X Linked recessive mode of inheritance, males can either be clear or affected, where as females can be clear, carriers or affected. Females are rarely affected because affected males are usually euthanized at young age. The disease is primarily found in males. Testing enables breeders to identify clear, carrier and affected dogs and help in reducing the occurrence of the disease.

XLMTM is considered rare and we currently have no information about its prevalence in the UK.

Trait of Inheritance
.

Inheritance : X-LINKED RECESSIVE trait

 

Sire

  Dam   Offspring
        Males   Females
clear
clear
100% clear
 
100% clear
             
clear
carrier
50%  clear + 50% affected
 
50%  clear + 50% carriers
             
clear
affected
100% affected
 
100% carriers
             
affected
clear
100%  clear
 
100%  carriers
             
affected
carrier
50% affected + 50% clear
 
50% affected + 50% carriers
             
affected
affected
100% affected
 
100% affected

 


Male:

Clear

Genotype: N [ normal ]

The dog is noncarrier of the mutant gene.

The dog will never develop X-linked Myotubular Myopathy (XLMTM) and therefore it can be used in breeding and should only be bred to clear females.

 

Affected

Genotype: XLMTM [ mutant ]

 

The dog carries the mutant gene and will pass it its entire female offspring.

The dog will develop X-linked Myotubular Myopathy (XLMTM) and will pass the mutant gene to its entire female offspring

Female:

Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

The dog will never develop X-linked Myotubular Myopathy (XLMTM) and therefore it can be used in breeding and should only be bred to clear females.

 

Carrier

Genotype: N / XLMTM [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

The dog will never develop X-linked Myotubular Myopathy (XLMTM) but since it carries the mutant gene, it can pass it on to its offspring.

 

Affected

Genotype: XLMTM / XLMTM [ 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 will develop X-linked Myotubular Myopathy (XLMTM) and will pass the mutant gene to its entire female offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks

  8 ) Stargardt disease ( STGD )

Breed
Labrador Retriever .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Labrador Retriever.

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

Stargardt disease is an inherited retinal degenerative disease that leads to visual impairment and blindness in both human and dogs. Photoreceptors are light-sensing cells found in the retina of the eye. There are two types of photoreceptors: rods and cones. Both rods and cones work together to detect light and convert it into electrical signals, which are then “seen” by the brain. Rods are found in the outer retina and help us see in dim and dark lighting. Cones are found in the macula, which is the part of the retina at the back of the eye and help us see fine visual detail and colour. In Stargardt disease both cones and rods degenerate, but for unclear reasons, cones are more strongly affected in most cases.

Although affected dogs often develop stargard disease symptoms before the age of ten, significant clinical signs appear late in life when affected dogs presenting with noticeable visual impairment around 10 years of age. Dogs that are affected by Stargardt disease don’t usually go completely blind, but retain some degree of vision.

The mutation responsible for Stargardt disease in Labrador retriever has been identified by researchers at The Swedish University of Agricultural Sciences, it is a mutation in the ABCA4 gene and a test is now available at Laboklin. The test will help in breeding healthy dogs.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-3 weeks
Price for the above 8 tests
£ 138.00 (including VAT)

To order:




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See also:

 
 
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