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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 Beagle DNA Bundle : IGS + Factor VII + MLS + NCCD + Osteogenesis imperfecta + PK + POAG + CAT Test number: 8620 Price: £ 138.00 (including VAT) for all 8 tests   1 ) Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)) Breeds Beagle , Border Collie , Komondor . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Beagle, and Border 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 Cobalamin malabsorption (merslunf-Gräsbeck Syndrome (IGS)) refers to a genetic disorder by which the vitamin B12, also known as cobalamin, fails to be absorbed from the intestine. Lack of cobalamin leads to changes in the hematopoietic system and to neurological symptoms due to irreversible damage of the brain and nervous system. Symptoms include anorexia, lethargy and failure to gain weight. Cobalamin malabsorption can be managed by supplementation with regular doses of cobalamin. Trait of Inheritance 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 Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / IGS [ 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 Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)) 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: IGS / IGS [ 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 Cobalamin Malabsorption (Imerslund-Gräsbeck syndrome (IGS)) 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 ) Musladin-Lueke syndrome (MLS) Breed Beagle . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Beagle. 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 Musladin-Lueke Syndrome (MLS) manifests with extensive fibrosis of the skin and joints. As puppies, affected dogs fail to thrive. By one year of age the disease stabilizes whereby arthrosis, stiffness, short outer digits as well as a typical flat head shape with higher ear set and slanted eyes are characteristic for this disease. Affected dogs walk upright on their front feeT in what resembles a ballerina stance. Additionally, they show a “happy” temperament. 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 Musladin-Lueke syndrome (MLS). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / MLS [ 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 Musladin-Lueke syndrome (MLS) 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: MLS / MLS [ 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 Musladin-Lueke syndrome (MLS) 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 ) Neonatal Cortical Cerebellar Abiotrophy (NCCD) Breeds Beagle , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Hungarian Wirehaired Vizsla (Vizslak) . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Beagle. 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 Cerebellar abiotrophy in Beagle is a genetic disease that causes programmed cell-death of Purkinje-cells in the cerebellum. This loss of brain tissue leads to dysfunction of balance and motor funktion. Affected dogs exhibit symptoms soon after birth or in very early age. These include tremor, ataxia and spastic paralysis. 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 Neonatal Cortical Cerebellar Abiotrophy (NCCD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / NCCD [ 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 Neonatal Cortical Cerebellar Abiotrophy (NCCD) 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: NCCD / NCCD [ 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 Neonatal Cortical Cerebellar Abiotrophy (NCCD) 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 ) Brittle Bone Disease (Osteogenesis Imperfecta) Breeds Beagle , Golden Retriever , Miniature Wire haired Dachshund , Miniature Smooth Haired Dachshund , Standard Smooth Haired Dachshund , Standard Wirehaired Dachshund . The Disease Osteogenesis Imperfecta is a generalized, inherited bone defect characterized by extreme fragility of bones and loose joints. The bones can break easily, sometimes they break for no known reason. The long bones are slender and have thin cortices. Calluses and recent fractures may be present. The disease can also cause weak muscles, brittle teeth, curved spine and hearing loss. The cause of the disease is a gene defect that affects how the body makes collagen, a protein that helps make bones strong Clinical Signs Clinical signs include pain, spontaneous bone and teeth fractures, loose joints, and reduced bone density on radiography. Primary teeth are extremely thin-walled and brittle Osteogenesis imperfecta can range from mild to severe and symptoms vary from one dog to another. Trait of Inheritance In Dachshunds, Osteogenesis imperfecta Is inherited as a autosomal recessive trait, however, in Beagle and Golden Retriever it is inherited as autosomal dominant 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 Brittle Bone Disease (Osteogenesis Imperfecta). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / OI [ 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 Brittle Bone Disease (Osteogenesis Imperfecta) 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: OI / OI [ 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 Brittle Bone Disease (Osteogenesis Imperfecta) and will pass the mutant gene to its entire offspring   Further reading Osteogenesis Imperfecta in Dachshund Canine COL1A2 mutation Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 2-3 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 ) Primary Open Angle Glaucoma (POAG) Breeds Basset Hound , Basset Fauve de Bretagne (Petit) , Beagle , Norwegian Elkhound , Petit Basset Griffon Vendeen . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Basset Hound, Basset Fauve de Bretagne (Petit), and Norwegian Elkhound. 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 A primary open angle glaucoma is a genetic dysfunction of the connective tissue in the eye. Thereby, the aqueous fluid is blocked and the pressure of the eyeball rises. Ultimately, the optic nerve and the retina are damaged leading from partial to complete blindness. Symptoms include widened pupils, red eyeballs, cloudy cornea and increased eye pressure. Raising eye-pressure causes pain, which leads to the dog loses it's appetite, scratches the eyes, rubbing it's head on walls and exhibit aggressive behaviour. Early diagnosis allows treatment in decreasing the eye-pressure constantly and thereby preventing damage on the optic nerve and retina. 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 Primary Open Angle Glaucoma (POAG). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / POAG [ 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 Primary Open Angle Glaucoma (POAG) 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: POAG / POAG [ 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 Primary Open Angle Glaucoma (POAG) 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   7 ) Factor VII Deficiency Breeds Airedale Terrier , Alaskan Klee Kai , Beagle , Finnish Hound , Giant Schnauzer , Papillon (Continental Toy Spaniel ) , Scottish Deerhound / Deerhound , Welsh Springer Spaniel . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Beagle. 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 Factor VII deficiency is a mild bleeding disorder caused by lack of factor VII (proconvertin) which plays a role in the blood clotting system. Affected dogs bruise easily and nosebleeds maybe seen. There is often prolonged bleeding after surgery or trauma and, in the cases of major surgical procedures or trauma, bleeding maybe severe. The condition may go unnoticed for long time and discovered only when a surgery is performed or if the dog had an accident, in both cases increased bleeding will be noticed which can be difficult to control. Your vet will suspect a bleeding disorder. Disease can be managed with the infusion of Frozen Fresh Plasma (FFP). In case of surgery , blood transfusion should be considered. Please note that Scottish Deerhound can also suffer aother bleeding disorder known as Delayed postoperative hemorrhage (DEPOH) and in fact it is possible for a Scottish Deerhound to be affected with both problems. Description Recently, the mutation responsible for this condition has been identified by Dr Urs Giger and researchers at the University of Pennsylvania. The test is now available at LABOKLIN. Factor VII deficiency follows a recessive trait of inheritance, the test identify a dog as affected (2 copies of the abnormal gene), clear (0 copies of the abnormal gene) or carrier (1 copy of the abnormal gene). Only affected dogs with two copies of the affected gene will develop the disease. Since this is am autosomal recessive condition, carrier dogs will not develop the disease but will pass the mutation to their offspring. Trait of Inheritance Factor VII Deficiency follows an autosomal recessive mode 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 Factor VII Deficiency. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / FVII [ 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 Factor VII 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: FVII / FVII [ 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 Factor VII 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   8 ) Catalase Deficiency ( CAT ) / Hypocatalasemia / Acatalasia Breed Beagle . The Disease Catalase Deficiency (hypocatalasemia or acatalasia) is a rare inherited disorder that is caused by recessive mutation in the CAT gene which is responsible for the production of the anti-oxidative enzyme catalase. Catalase enzymes regulates the metabolism of hydrogen peroxide, one of many by-products generated during the respiration process. Affected dogs are particularly sensitive to hydrogen peroxide’s oxidative stress, causing painful 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 Catalase Deficiency ( CAT ) / Hypocatalasemia / Acatalasia. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.   Carrier Genotype: N / CAT [ 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 Catalase Deficiency ( CAT ) / Hypocatalasemia / Acatalasia 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: CAT / CAT [ 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 Catalase Deficiency ( CAT ) / Hypocatalasemia / Acatalasia and will pass the mutant gene to its entire offspring Turnaround 1-2 weeks Price for the above 8 tests £ 138.00 (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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