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Home   News and offers   Genetic Diseases Dogs Cats Horses Cattle Pigs Rabbit Sheep   Coat Colours / Length   Identity / Parentage   Reptiles & Amphibians   Avian Tests   Profiles / Screening   Infectious Diseases   Organs / Parameters   Allergy testing   Pathology   Downloads & Order   Order Kit Online   About Us   Crufts & Shows   Contact Us   Kennel Club ABS   facebook   **NEW** Maine Coon Special offer: 8 DNA tests for just £84.95 incl VAT Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs)  **NEW** Bengal Special offer: 4 Bengal Specific DNA tests for just £72.00 incl VAT Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def + Blood Groups)  British Special offer: 4 Breed Specific DNA tests for just £72.00 incl VAT British Short / Long Hair DNA bundle (PKD + pd-PRA + ALS + Blood Groups) Burmese Special offer: 4 Breed Specific DNA tests for just £72.00 incl VAT Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups Birman Special offer: 5 Breed Specific DNA tests for just £72.00 incl VAT Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6 + Blood Groups) Maine Coon Special offer: 5 Breed Specific DNA tests for just £72.00 incl VAT Maine Coon DNA bundle (HCM1 + SMA + PK-Def + F11 + Blood Groups) Ragdoll Special offer: 5 Breed Specific DNA tests for just £72.00 incl VAT Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA + Blood Groups) Norwegian Special offer: 4 Breed Specific DNA tests for just £72.00 incl VAT Norwegian Forest DNA bundle (PK-Def + Amber + GSD4 + Blood Groups) Feline Special Offer: 8 cat DNA tests for just £84.95 including VAT HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups

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 Labrador Retriever KC DNA bundle (EIC+HNPK+SD2+CNM+MCD+STGD+prcd-PRA) Test number: 8710 Price: £ 150.00 (including VAT) for all 7 tests   1 ) Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD) Breeds German Hunting Terrier , Great Dane , Heide Terrier , Labradoodle , Labrador Retriever . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Great Dane, and 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 Clinical features of hereditary myopathy in Labrador Retrievers include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance and increased collapse when exposed to cold. 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. IN Great Dane, the disease is caused by a different mutation and is known as Inherited Myopathy of Great Danes (IMGD) Trait of Inheritance Hereditary myopathy in Labrador Retrievers 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 Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / CNM [ 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 Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD) 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: CNM / CNM [ 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 Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD) 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 ) Exercise Induced Collapse ( EIC ) NEW EUROPEAN EXCLUSIVE LICENSE 10/12/2008 We are pleased to announce that LABOKLIN has now an Exclusive License to offer the EIC DNA test (Exercise Induced Collapse) in Labrador Retriever in Europe. Breeds Boykin Spaniel , Chesapeake Bay Retriever , Clumber Spaniel , Curly Coated Retriever , German Wirehaired Pointer , Labradoodle , Labrador Retriever , Old English Sheepdog (Bobtail) , Pembroke Welsh Corgi . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Clumber Spaniel, Curly Coated Retriever, and 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 Exercise Induced Collapse is an inherited condition that affects Labrador Retriever and related breeds. Affected dogs can endure mild to moderate exercise but after 5 to 20 minutes of heavy exercise with extreme excitement, the dog shows weakness and then collapse. Severely affected dogs may collapse whenever they are exercised to this extend – other dogs only exhibit collapse episodes sporadically. Signs of EIC are not typically seen until the dog begin intense training. First symptoms are usually noted between 5 months and 3 years of age. However, it is confirmed that some affected dogs did not have collapse episodes until as late as age 10. Clinical Signs The first symptom noted during an episode is usually a rocking or forced gait. The rear limbs then become weak and unable to support weight. Many affected dogs will continue to run while dragging their back legs. Some dogs appear uncoordinated, especially in the rear limbs, with a wide-based, long, loose stride rather than the sort stiff strides typically associated with muscle weakness. In some dogs the rear limb collapse progresses to forelimb weakness and occasionally to a total inability to move. Some dogs appear to have a loss of balance and may fall over, particularly as they recover from complete collapse. Most collapsed dogs are totally conscious and alert, still trying to run and retrieve, but as many as 25% of affected dogs will appear stunned or disoriented during the episode. Description The the genetic mutation responsible for susceptibility to EIC was identified at the University of Minnesota (EE Patterson, JR Mickelson, KM Minor). This is a mutation based test that classifies dogs as Clear, Carriers and Affected. Clear and Carrier dogs will not show signs of EIS, however carriers can pass the mutation to their offspring. The test provides reliable information to dog breeders and owners that enable them to control the spread of the mutation in the breed. Trait of Inheritance EIC follows an 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 Exercise Induced Collapse ( EIC ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / EIC [ 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 Exercise Induced Collapse ( EIC ) 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: EIC / EIC [ 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 Exercise Induced Collapse ( EIC ) 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   3 ) Hereditary Nasal Parakeratosis (HNPK) License Laboklin acquired a worldwide license for HNPK 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 In nasal parakeratosis a genetic disorder causes the dogs nose to dry out. Especially, the dorsal surface of the planum forms keratinous scales, which adhere to the nose. Bloody fissures might occur in this structures, leading to chronic irritation and inflammation of the noses skin. The colour of the skin might change from dark to lighter colour. Affected dogs develop first symptoms at the age of six month to one year. The nose can be treated with Vaseline, propylene glycol or salicylic acid containing products to ease the symptoms. Description The causative gene defect was discovered by scientists of the institute for genetics, Vetsuisse-faculty of the university Bern (Group of Prof. Tosso Leeb). 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 Hereditary Nasal Parakeratosis (HNPK). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / HNPK [ 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 Hereditary Nasal Parakeratosis (HNPK) 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: HNPK / HNPK [ 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 Hereditary Nasal Parakeratosis (HNPK) 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   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 ) Dwarfism (Skeletal Dysplasia 2 / SD2 ) Breeds Labradoodle , 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 Skeletal dysplasia 2 is a genetic disease in Labrador Retrievers that causes an early halt in growth of long bones. In contrast to other forms of dwarfism (pituitary dwarfism), the result is 'disproportioned' dogs with shortened front limbs and raising dorsal line. Torso length and depth is not altered. Based on the latest knowledge, affected dogs do not exhibit further symptoms like malformed genitals or neuronal diseases as in pituitary dwarfism. (Picture courtesy of Prof. Tosso Leeb). Description LABOKLIN now offers a genetic test for Skeletal Dysplasia 2 (dwarfism) in Labrador Retriever. The test for the mutation has been developed by Prof. Dr. Leeb's and Prof. Dr. Lohi's group. The disease is most spread in hunting and working types of dog. Despite smaller and disproportioned body size, no further symptoms seem to occur. 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 Dwarfism (Skeletal Dysplasia 2 / SD2 ). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / SD [ 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 Dwarfism (Skeletal Dysplasia 2 / SD2 ) 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: SD / SD [ 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 Dwarfism (Skeletal Dysplasia 2 / SD2 ) 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 ) 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   7 ) 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 Retrievers Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 1-2 weeks Price for the above 7 tests £ 150.00 (including VAT) To order: Download Order Form from this link Complete the order form and send it together with your samples to the following address: Laboklin (UK),   Unit 20, Wheel Forge Way, Trafford Park, Manchester, M17 1EH Buccal swabs and EDTA tubes are available from us free of charge, to order, please use the online form <Request sample collection materials> or  email: info@laboklin.co.uk. If you are sending swab samples, please follow the instructions on this link . If you have any queries, please contact us on 0161 282 3066 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: Progressive Retinal Atrophy (Dominant PRA) Globoid Cell Leukodystrophy (Krabbe Disease) CSNB (Congenital Stationary Night Blindness) CLAD (Canine Leukocyte Adhesion Deficiency) von Willebrand disease Type II (vWD II) PK Deficiency (Pyruvate Kinase Deficiency) Fucosidosis PFK Deficiency (Phosphofructokinase deficiency / PFKD) Myotonia Congenita MH (Malignant Hyperthermia) X-Linked Severe Combined Immunodeficiency (X-SCID) GM1-Gangliosidosis Narcolepsy Muscular Dystrophy (MD) MPS ( Mucopolysaccharidosis type VII) Hereditary Myopathy / Centronuclear Myopathy (HMLR, CNM / IMGD) Canine Cyclic Neutropenia (Gray Collie Syndrome) Progressive Retinal Atrophy (cord1- PRA / crd4 PRA) L-2-HGA ( L- 2 - hydroxyglutaric aciduria ) L2HGA von Willebrand disease Type I (vWD I) von Willebrand disease Type III (vWD III) Neuronal Ceroid Lipofuscinosis ( CL / NCL ) Trapped Neutrophil Syndrome ( TNS ) Progressive Retinal Atrophy (crd PRA) PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency) Factor VII Deficiency Progressive Retinal Atrophy (rcd1 PRA) Progressive Retinal Atrophy (rcd3 PRA) Progressive Retinal Atrophy (rcd1a PRA) Juvenile Brain Disease ( JBD ) / Juvenile Encephalopathy ( Epilepsy ) Microphthalmia ( RBP4 ) French Bulldog DNA bundle (DM + HSF4 + CHG + Cy + CMR + CDDY/CDPA) Leonberger KC DNA bundle (LPN1+LPN2+LEMP+LPPN3) Spanish Water Dog DNA bundle Lethal Acrodematitis ( LAD ) MDR1 Gene Varian / Ivermectin Sensitivity * (ABCB1) Exercise Induced Collapse ( EIC ) Dwarfism (Pituitary Dwarfism / Hypopituitarism) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1 Greyhound Neuropathy (Hereditary Neuropathy) Brittle Bone Disease (Osteogenesis Imperfecta) Glycogen Storage Disease (GSDllla) Hereditary Cataract (HSF4) Neonatal encephalopathy (NE / NEWS) Haemophilia B (factor IX deficiency / F9 ) JEB (Junctional Epidermolysis bullosa) Primary Lens Luxation (PLL) Brachyury (Bobtail Gene / Short Tail / T-Box) Familial Nephropathy (FN) / Hereditary Nephropathy * Startle Disease (SD) / Hyperekplexia Familial Nephropathy (FN) / Hereditary Nephropathy Myostatin Mutation ("Bully" Whippet)/ Double Muscling Hereditary Nephritis / Samoyed Hereditary Glomerulopathy Episodic Falling in Cavalier King Charles Spaniel (EF) Dry Eye and Curly Coat syndrome (CCS) Haemophilia A (factor VIII deficiency / F8) Congenital Hypothyreosis / hypothyroidism ( CHG ) Hereditary Nasal Parakeratosis (HNPK) Juvenile Epilepsy (JE) Musladin-Lueke syndrome (MLS) Ichthyosis ( ICH ) * Neonatal Cortical Cerebellar Abiotrophy (NCCD) Dwarfism (Skeletal Dysplasia 2 / SD2 ) Primary Open Angle Glaucoma (POAG) Progressive Retinal Atrophy (generalized PRA) Progressive Retinal Atrophy (GR-PRA1) Progressive retinal atrophy ( rcd4-PRA) / LOPRA Alaskan Malamute Polyneuropathy (AMPN / IPAM / HPAM) Pug Dog Encephalitis (PDE) / Necrotizing Meningoencephalitis (NME) Polycystic Kidney Disease (PKD) Pompe's Disease (Glycogen Storage Disease type II / GSDII) Primary ciliary dyskinesia (PCD) Protein Losing Nephropathy (PLN) Late Onset Ataxia (LOA) Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)) Spinocerebellar ataxia (SCA) pap-PRA1 (Progressive Retinal Atrophy) Progressive Retinal Atrophy (BAS PRA) CMSD (Canine Multiple System Degeneration) Hereditary Cataract (HSF4) * Progressive Retinal Atrophy (prcd-PRA): (8094P / 8127) Thrombopathia (Thrombopathy) Digital Hyperkeratosis (DH) (Hereditary Footpad Hyperkeratosis / Corny Feet) Degenerative Myelopathy / degenerative radiculomyelopathy) DM (Exon 1) Ectodermal Dysplasia / Skin Fragility Syndrome (ED / SFS) Hypomyelination (Shaking Puppy Syndrome) SPS JRT and PRT Pack A: LOA + SCA + JBD JRT and PRT Pack B: LOA + SCA + PLL + JBD + DM2 Leonberger Polyneuropathy 1 ( LPN1) Hereditary Ataxia (HA) Finnish Hound Ataxia / Cerebellar Ataxia (FHA / CAFH) Dandy-Walker-Like Malformation (DWLM) / Cerebellar Hypoplasia (CH) Persistent Müllerian duct syndrome (PMDS) Fanconi Syndrome (FS) Lagotto Storage Disease (LSD) Juvenile Laryngeal Paralysis & Polyneuropathy (JLPP) Progressive Retinal Atrophy (CNGA1 PRA) Achromatopsia (day blindness) / ACHM Progressive Retinal Atrophy (GR-PRA2) Postoperative Hemorrhage (P2Y12 / P2RY12)

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