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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 Maine Coon DNA bundle (HCM1 + SMA + PK-Def + FXI + Blood Groups) Test number: 8718 Price: £ 72.00 (including VAT) for all 5 tests   1 ) HCM 1 (Hypertrophic Cardiomyopathy) Breed Maine Coon . The Disease HCM 1 (Hypertrophic Cardiomyopathy) Mutation Meurs A31P Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous myocardial disease and is the most common cardiac disease identified in domestic cats. HCM is characterised by an increased left ventricular mass due to an increase in wall thickness of the heart, with papillary muscle hypertrophy and systolic anterior motion of the Mitral valves. Subsequently, hypertrophy of the left heart chamber results in cardiac weakness and ultimately in heart failure. Death by HCM can occur via three mechanisms: (i) sudden cardiac death with arrhythmia and ventricular fibrillation, (ii) heart failure with tachycardia, increased respiration, shortness of breath, pulmonary oedema and pleural effusion or (iii) thrombus formation. Thrombi can form either in the left atrium due to abnormal blood circulation or in the heart chamber itself due to severe hypertrophy and cardiac weakness. Atrial thrombi can brake free and reach the arterial blood circuit, thereby often causing blood congestion at the branching of pelvic and crural arteries with paralysis of the hind legs. Echocardiographic examination has so far been the only diagnostic tool for this disease. However, it can only identify affected cats with some years of age, when they already present first symptoms of HCM. Description DNA test By DNA testing the mutation can be shown directly. The testing is carried out by state of the art laboratory methods and therefore provides a very high accuracy. In general DNA tests can be done at any age. The test can be applied to Maine Coon and Maine Coon related cats, which were cross bred to Maine Coons. With this test we can diagnose the reported mutation, but by no means we can report on the presence/absence of the disease (especially in breeds where the correlation of HCM disease and the cited mutation is not proven). The results that are transmitted contain the information on presence/absence of the G to C mutation in the MYBPC gene exon 3 in the sample of the cat examined. We want to point out that there is still a small possibility of other mutations causing HCM which are not identified so far. Trait of Inheritance HCM is inherited as a single autosomal dominant condition. Heterozygous animals show all clinical signs of disease and can not live normal lives. They are able to propagate mutations throughout the population. Generally, 50% of a HCM positive cats offspring will inherit HCM. Homozygously affected animals for HCM show more severe clinical symptoms and will pass the defect gene onto all of their offspring. Recently, a mutation in the MYBPC gene which is suggested to cause HCM in cats was found by Dr. Kathryn Meurs (Washington State University, USA). This mutation was found in most HCM affected cats but not in cats which were tested free by means of echocardiographic techniques. In our laboratory, we were also able to identify this mutation in european cats with HCM. Inheritance : AUTOSOMAL DOMINANT trait Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 1-2 weeks   2 ) SMA (Spinal Muscular Atrophy ) Breed Maine Coon . The Disease SMA is a disorder caused by death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age. Affected kittens develop an odd gait with a sway of the hindquarters and stand with the hocks nearly touching. They may also stand with toes out in the front. By 5-6 months of age they are too weak in the hindquarters to readily jump up on furniture and often have a clumsy landing when jumping down. The long hair Maine Coon cats may hide it, but careful feeling of the limbs will reveal reduced muscle mass. Description By DNA testing, the responsible mutation can be shown directly. This method provides a test with a very high accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and clear cats, 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. To ensure maximum test reliability, the test is always performed in two independent test runs per sample. Trait of Inheritance SMA is inherited as an autosomal recessive trait. So there are three conditions a cat can be: it can be clear or homozygous normal (genotype N/N) meaning that it does not carry the mutation and will not develop SMA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other cat. A cat which has one copy of the gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/SMA); while it will not be affected by SMA, it can pass the mutation onto its offspring and should therefore only be mated to clear cats. Affected kitten have two gene copies with the mutation (genotype SMA/SMA or homozygous affected); they will always pass the mutated gene onto 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 cat is noncarrier of the mutant gene. It is very unlikely that the cat will develop SMA (Spinal Muscular Atrophy ). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.   Carrier Genotype: N / SMA [ Heterozygous ] The cat carries one copy of the mutant gene and one copy of the normal gene. It is very unlikely that the cat will develop SMA (Spinal Muscular Atrophy ) 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)   Affected Genotype: SMA / SMA [ Homozygous mutant ]   The cat carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring. The cat is likely to develop SMA (Spinal Muscular Atrophy ) 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 ) PK Deficiency (Pyruvate Kinase Deficiency) Breeds Abyssinian , Bengal (Leopard cat) , Domestic Longhair , Domestic Shorthair , Egyptian Mau , LaPerm Longhair , LaPerm Shorthair , Maine Coon , Norwegian Forest Cat , Ocicat , Savannah , Siberian , Singapura , Somali . 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 cats, PK deficiency has been described in Abyssinian and Somali 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. The clinical signs of disease reflect the anemic status of the animal and include exercise intolerance, weakness, heart murmur and splenomegaly. Description PK - The Mutation-based Test and its Advantages 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. If a particularly valuable animal turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding. Trait of Inheritance PK is inherited as an autosomal recessive condition. Heterozygotes (carriers) do not have any clinical signs of disease and live normal lives. They are able to propagate mutations throughout the population however and it is therefore important that carrier animals are detected prior to breeding. PK deficiency can be detected, using molecular genetic testing techniques. 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. 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 cat is noncarrier of the mutant gene. It is very unlikely that the cat will develop PK Deficiency (Pyruvate Kinase Deficiency). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.   Carrier Genotype: N / PK [ Heterozygous ] The cat carries one copy of the mutant gene and one copy of the normal gene. It is very unlikely that the cat 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 cats. 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 cat carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring. The cat 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 1-2 weeks   4 ) Factor XI deficiency ( F11 ) Breed Maine Coon . The Disease Coagulation factor XI is a plasma protein which is involved in the intrinsic blood coagulation cascade. In contrast to haemophilia, bleeding tendency in factor XI deficiency is only slightly increased. Haematomas and other minor bleeding are typical which only occur sometimes after trauma or surgery. Factor XI deficiency prolongs the partial thromboplastin time in plasma, but the prothrombin time remains normal. LABOKLIN has studied Maine Coon cats with an increased bleeding tendency as well as their relatives and identified a genetic defect in factor XI. This has also led to the detection of homozygous affected cats as well as carriers in Europe. Factor XI deficiency is inherited in an autosomal recessive manner. This genetic test can be used to reliably identify Maine Coon cats with an increased risk of bleeding, but also asymptomatic male and female carriers, and thus limit the transmission of this genetic defect in breeding. Trait of Inheritance Autosomal recessive trait of inheritance Inheritance : AUTOSOMAL RECESSIVE trait   Sire   Dam   Offspring           clear clear 100% clear           clear carrier 50%  clear + 50% carriers           clear affected 100% carriers           carrier clear 50%  clear + 50% carriers           carrier carrier 25% clear + 25% affected + 50% carriers           carrier affected 50% carriers + 50% affected           affected clear 100%  carriers           affected carrier 50% carriers + 50% affected           affected affected 100% affected   Clear Genotype: N / N [ Homozygous normal ] The cat is noncarrier of the mutant gene. It is very unlikely that the cat will develop Factor XI deficiency ( F11 ). The cat will never pass the mutation to its offspring, and therefore it can be bred to any other cat.   Carrier Genotype: N / F11 [ Heterozygous ] The cat carries one copy of the mutant gene and one copy of the normal gene. It is very unlikely that the cat will develop Factor XI deficiency ( F11 ) 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 cats. Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)   Affected Genotype: F11 / F11 [ Homozygous mutant ]   The cat carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring. The cat is likely to develop Factor XI deficiency ( F11 ) and will pass the mutant gene to its entire offspring Sample Requirements Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube Turnaround 1-3 weeks   5 ) Genetic Blood groups in cats update September 2019: LABOKLIN holds the patent for the new improved test, which: is validated for all cat breeds except Domestic Shorthair, and can now check for more 'b' allele variants than ever before including the b3 which was identified by researchers at Laboklin, and can check for the 'c' allele which is resposnible for the AB serotyp, and only available at Laboklin Breed All Cat Breeds . The Disease The AB system is the major blood group system in domestic cats. The common blood types are A and B. Cats with bloodtype B have anti-A antibodies at a high titer and cats with blood type A have anti-B antibodies at a low titer. Cats with the rare AB blood type do not have anti-A or anti-B antibodies. These natural antibodies can leed to bloodgroup incompatibility that can be lethal. The condition is known as Neonatal isoerythrolysis (NI), first symptoms are dyspnea, vomiting and agitation. A recent study at Laboklin identified a number of new variants involved in determining the different blood groups in cats. Our Genetic Blood Group DNA test has now been updated with the new variants and as a result we can now screen all cat breeds except Domestic Shorthair for genetic blood groups. The updated test can detect the 'b' mutation which is reposnible for blood group 'B' more accurately than before and in more breeds, and the 'c' mutation which is repsonsible for blood group 'AB' in Ragdoll and Bengal can now be detected. The test is valid for all cat breeds except: Domestic Shorthair. The new improved test is more comperhensive than any other commercially available tests. Neonatal isoerythrolysis (NI): Neonatal isoerythrolysis occurs when kitten with blood group A or AB (also known as C) are born to a queen with blood type B. A-type and AB-type kittens absorb the anti-A antibodies from the breast milk. The hemolytic disease that ensues can be lethal. This incompatibility reaction, especially important for breeders, is neonatal isoerythrolysis (NI). Neonatal isoerythrolysis in cats, also called fading kitten syndrome, is a dissolution of the red blood cells. Only new born cats with blood groups A or AB (also known as C) whose mother has blood group B are affected by NI. In pedigree catteries, neonatal isoerythrolysis may occur in first-born and multiparous queens with blood group B, if they are mated to toms having blood groups A or AB (also known as C). The kittens, with blood group A and AB (also known as C), which were born healthy, however, take up the mother's antibodies with the colostrum. These bind to the erythrocytes, which are then destroyed. Anaemia, excretion of protein in the urine and jaundice are the consequences, so that the kittens usually die within the first week of life. In some cases, the intestinal barrier is already closed at the time of birth, so that the absorption of the immunoglobulins by the kitten is prevented. Therefore, some theoretically at-risk kittens may not develop neonatal isoerythrolysis. Thus, not all kittens with blood groups A and C whose mother is type B develop NI. Good to know Blood type B kittens whose mothers have blood group A do not develop NI. This is due to the low anti-B antibody titre in blood group A queens. As a rule, new born kittens with clinical symptoms cannot be treated successfully. However, neonatal isoerythrolysis can be prevented by determining the blood groups of possible breeding partners in advance and avoiding mating between queens with blood group B and toms with types groups A or AB (also known as C). However, if such mating does occur, the kittens with blood groups A or AB (also known as C) should be separated from their type B mother immediately after birth and should be hand-fed for the first 24-48 hours to prevent them from ingesting colostrum containing high levels of anti-A antibodies, which can cause NI. After this period, the intestinal barrier will be closed and kittens can safely return to the queen and nurse as usual. For the genetic blood group determination, Laboklin requires either an EDTA blood sample (0.5 - 1 ml) or 2 cheek swabs. The sample run time after sample arrival is approx. 3-5 working days. Description The differences between blood types is determined by the activity of cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH). CMAH is only active in type A erythrocytes and either absent or non-functional in type B red blood cells. This inactivity is caused by different mutations in the CMAH gene. The original mutation which is causative for blood type B was found by Leslie A. Lyons research team and allows for correctly identifying 86 % of all type B cats which still left 14 % of serological type B cats misidentified, especially Ragdolls and Turkish Angora cats. Our own research shows that additional screening for two other novel mutations correctly identifies 99% of all type B cats. By determining just these two novel variants all type A and B Ragdolls were identified correctly. These two mutations were also found to be causative for blood type B in Turkish Angora, Neva Masquerade, Scottish Fold as well as Domestic Shorthair cats Leslie A. Lyons research team found another variant in CMAH which is responsible for blood type C (AB) in Ragdolls. We found that this specific mutation is not exclusively found in Ragdolls even though it is rare in other breeds. Type C Bengal cats could also be correctly identified by this mutation and it was also found in British Shorthairs, Maine Coons and Scottish Fold cats. Since 2017 we practice a genotyping scheme with four variants, three of those to identify blood type B cats correctly and one additional to include the most common variant for blood type C. The test now detects three genetic variants for the 'b' allele (268T>A, 179G>T, 1322delT) and one variant for the 'c' allele (364C>T). The 3 'b' variants are also known as b1, b2, and b3. Trait of Inheritance Inheritance : N > c > b trait Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 1-2 weeks Price for the above 5 tests £ 72.00 (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: HCM 1 (Hypertrophic Cardiomyopathy) Polycystic Kidney Disease 2 (PKD2) HCM (Hypertrophic Cardiomyopathy HCM3/HCR) PKD (Feline Polycystic Kidney Disease) PK Deficiency (Pyruvate Kinase Deficiency) Progressive Retinal Atrophy ( rdAc - PRA ) SMA (Spinal Muscular Atrophy ) Serological Evaluation of blood Groups Hypokalemia / Familial Episodic Hypokalaemic Polymyopathy (BHK) Head Defect (BHD) Alpha-Mannosidosis (AMD) Congenital Myasthenic Syndrome (CMS) / Hereditary Myopathy Gangliosidosis GM1 Gangliosidosis GM2 Gangliosidosis GM2 Mucopolysaccharidosis Type VI (MPS VI MPS6) Mucopolysaccharidosis type VII (MPS VII / MPS7) Myotonia Congenita (Fainting Goat) Progressive Retinal Atrophy (pd-PRA) Progressive Retinal Atrophy (rdy-PRA) Hypotrichosis and Short Life Expectancy Progressive Retinal Atrophy in Bengal (PRA-b / b-PRA) Special Offer: HCM, HCR, GSD4, PKD, PRA, PK-Def., SMA, Blood Groups Osteochondrodysplasia (Scottish Fold Osteodystrophy) Primary Congenital Glaucoma (PCG) Cystinuria (Feline Cystinuria) (CY) Persian DNA bundle (PKD + pd-PRA + AMD + Blood Groups) British Short / Long Hair DNA bundle (PKD + pd-PRA + ALPS + Blood Groups) Burmese DNA bundle (Hypokalemia (BHK) + Head Defect + Gangliosidosis (GM2) + Blood Groups Birma DNA bundle (PKD + pd-PRA + Hypotrichiose + MPS6 + Blood Groups) Bengal DNA bundle (rdAc-PRA + b-PRA + PK-Def + Blood groups) Ragdoll DNA bundle (HCM1 + HCM3 + PKD + pd-PRA + Blood groups) Norwegian Forest DNA bundle (PK-Def + Amber + GSD4 + Blood groups) Siamese / Oriental DNA bundle (GM1 + MPS6 + PCG + rdAc-PRA + Blood Groups) Sphynx DNA bundle (HCM4 + Hypokalemia + CMS + Blood groups) Acrodermatitis enteropathica in Felis catus Factor XI deficiency ( F11 ) MDR1 Gene Defect Skeletal Dysplasia Factor 12 FXII cat Devon Rex DNA bundle (CMS + Blood Groups + Long Coat + Rex Hair) Siberian DNA Bundle (Blood Groups + PK-Def + Dilution + Colourpoint) Genetic Blood groups in cats LABOGenetics XXL Cat - Comprehensive Feline DNA bundle Autoimmune Lymphoproliferative Syndrome (ALPS) Polydactyly (extra toes) / polydactylism / Polydactyl / hyperdactyly Unlisted DNA test Congenital Hypothyroidism (CH) Maine Coon 8 DNA tests bundle (HCM, SMA, PKDef, Poly, b, b1, cb, cs) Blue Eyes HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx Glycogen Storage Disease ( GSD ) Type IV

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