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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 HCM4 ( Hypertrophic Cardiomyopathy HCM 4) in Sphynx Test number: 8695 Gene: HCM4 Price: £ 48.00 (including VAT) Breeds Canadian Sphynx , Sphynx . The Disease Hypertrophic cardiomyopathy (HCM) is one of the most commonly encountered heart disease in cats. This disease is characterized by an abnormal thickening (hypertrophy) of one or several areas of the walls of the heart, usually of the left ventricle. The disease is caused by a variety of genetic anomalies of the cardiac muscle proteins. In cats, this disease is more prevalent in Ragdolls, Maine Coon, oriental breeds (Himalayan, Burmese, Sphynx, Persians) and Devon Rex, but it is also commonly diagnosed in Domestic Short Hair cats. A specific genetic defect has been identified in Ragdolls known as HCM3 and Maine Coon known as HCM1. Besides HCM1 for the Maine Coon and HCM3 for the Ragdoll cat, HCM4 can now also be tested for the Sphynx. As with the other HCM tests, this variant has been found specifically in the Sphynx. Not all genetically affected cats show symptoms in the course of their life. It is also assumed that besides this variant, there is at least one other, yet unknown, variant affecting this breed, which can cause HCM. There is still no genetic test for HCM for British Shorthair (BKH) cats and other breeds. Occurrence: The genetic variant seems to be quite common, but the number of samples is low so far. Trait of Inheritance autosomal dominant with variable penetrance: Due to the incomplete penetrance of this trait, even if a cat has the genetic mutation, the mutation may not actually penetrate or lead to the development in full disease in that cat and therefore carriers may or may not develop the disease. Inheritance : AUTOSOMAL Dominant with Incomplete Penetrance 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. Clear. This indicates that your cat does not carry the genetic mutation associated with Sphynx HCM. However, this does not guarantee that your cat will never develop HCM, as there may be other factors that can cause the disease. It simply means that your cat will not develop HCM due to the known Sphynx DNA mutation   Carrier Genotype: N / HCM4 [ Heterozygous ] The cat carries one copy of the mutant gene and one copy of the normal gene. Heterozygous (Carrier) This means that your cat carries one copy of the genetic mutation and one normal gene. Due to the incomplete penetrance of this trait, even if a cat has the genetic mutation, the mutation may not actually penetrate or lead to the development in full disease in that cat and therefore carriers may or may not develop the disease. It is not recommended to exlude heterozygous cats from breeding. Many cats with this genetic makeup may not develop the disease. It might be reasonable to breed these cats with clear cat (N/N), screen the kittens, and aim to select a negative kitten as a future breeding animal. However, we strongly advise against breeding two heterozygous (carriers) cats together, as this could result in homozygously affected offspring, which will definitely pass on the mutation.   Affected Genotype: HCM4 / HCM4 [ Homozygous mutant ]   The cat carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring. Genetically affected: This means that your cat has two copies of the HCM4 genetic mutation. Please note that not all genetically affected cats will develop HCM. To reduce the prevalence of this variant in the breed it is not recommended to breed genetically affected cats. Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 2-3 weeks Price £ 48.00 (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) Osteochondrodysplasia (Scottish Fold Osteodystrophy) OCD 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 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) Maine Coon DNA bundle (HCM1 + SMA + PK-Def + FXI + 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 Polycystic Kidney Disease 2 (PKD2) Glycogen Storage Disease ( GSD ) Type IV

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