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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 Havanese (Bichon) DNA bundle (DM exon 2 + F8 + IVDD-risk + MTC + Furnishing) Test number: 8929 Price: £ 138.00 (including VAT) for all 5 tests   1 ) Degenerative Myelopathy / Degenerative Radiculomyelopathy) DM (Exon 2) / SOD1 Breeds Airedale Terrier , Alaskan Malamute , All Dog Breeds , American Eskimo , Bernese Mountain Dog , Bloodhound , Borzoi (Russian Wolfhound) , Boxer , Cavalier King Charles Spaniel , Canaan Dog , Welsh Corgi (Cardigan) , Chesapeake Bay Retriever , Cockapoo (English) , Cockapoo (American) , Fox Terrier , French Bull Dog , German Shepherd , Glen Of Imaal Terrier ( GIT ) , Golden Retriever , Goldendoodle , Pyrenean Mountain Dog (Great Pyrenees) , Hovawart , Pumi ( Hungarian Pumi / Pumik ) , Jack Russell Terrier , Kerry Blue Terrier , Labradoodle , Labrador Retriever , Lakeland Terrier , Northern Inuit (Tamaskan / British Timber Dog) , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Pembroke Welsh Corgi , Poodle , Pug , Rhodesian Ridgeback , Rough Collie , Soft Coated Wheaten Terrier , Shetland Sheepdog (Sheltie) , Smooth Collie , Utonagan , Wire Fox Terrier . Kennel Club This test is part of the Official UK Kennel Club DNA Testing Scheme in Chesapeake Bay Retriever, French Bull Dog, German Shepherd, Nova Scotia Duck tolling Retriever ( NSDTR / Toller), Rough Collie, and Smooth 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 Canine degenerative myelopathy (also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 7 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. As of July 15, 2008 the mutated gene responsible for DM has been found present in 43 breeds including German Shepherds, Boxers, Chesapeake Bay Retrievers, Rhodesian Ridgebacks, and both breeds of Welsh Corgis. The disease is chronic and progressive, and resulting in paralysis. Clinical Signs Degenerative myelopathy initially affects the back legs and causes muscle weakness and loss, and lack of coordination. These cause a staggering effect that may appear to be arthritis. The dog may drag one or both rear paws when it walks. This dragging can cause the nails of one foot to be worn down. The condition may lead to extensive paralysis of the back legs. As the disease progresses, the animal may display symptoms such as incontinence and has considerable difficulties with both balance and walking. If allowed to progress, the animal will show front limb involvement and extensive muscle atrophy. Eventually cranial nerve or respiratory muscle involvement necessitates euthanasia. Progression of the disease is generally slow but highly variable. The animal could be crippled within a few months, or may survive up to three years Description SOD1-Gene Please note that Exon 2 can be found in all dog breeds, there is another DM mutation in Exon 1 which can only be found in Bernese Mountain Dog, click here for more information. For bernese Mountain Dog we have a special offer for both Exon 1 and Exon 2 at reduced price, click here for more details. Trait of Inheritance Tow alleles are invloved in Degenerative Myelopathy, A and G, therefore a test result can be A/A, A/G, or G/G. Mode of inheritance is autosomal recessive with variable penetrance; 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 show signs of the Degenerative Myelopathy   Carrier Genotype: N / DM (Exon 2) [ 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 show signs of the Degenerative Myelopathy   Affected Genotype: DM (Exon 2) / DM (Exon 2) [ 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 may or may not show signs of the disease Sample Requirements Buccal Swabs or 0.5 - 1 ml blood in EDTA Blood Tube Turnaround 2-3 weeks   2 ) Haemophilia A (factor VIII deficiency / F8 ) This is a LABOKLIN patented/licenced Breed Havanese - Bichon Havanese . The Disease Haemophilia A is one of the most important inherited disorders of haemostasis in Havanese Dogs. The underlying pathomechanism of Haemophilia A is a lack or decreased activity of factor VIII that plays a critical role in the coagulation cascade. Affected dogs present with hemorrhage that can vary from mild to severe depending on the degree of the disease. The clinical signs include haematomas of large sizes, bleeding of the nose, skin, muscles and joints. If the disease is severe and no precautions are taken, affected dogs can bleed to death after surgery or injury. In cooperation with Prof. Dr. Mischke (Tierärztliche Hochschule Hannover) LABOKLIN was able to identify a SINE insert in exon 14 of the factor VIII gene that is responsible for the lack of active factor VIII protein in Havanese Dogs. Haemophilia A is a sex-linked disorder (x-chromosomal recessive). Male dogs express the disease when they have one mutated x-chromosome. The mutated x-chromosome comes from the bitch. In most cases female dogs are carrier of one mutated x-chromosome without being diseased (conductor). According to Mendel's Law of Inheritance, 50% of the male puppies of a carrier bitch will have the mutated x-chromosome and express the disease and 50% of the female puppies will be healthy carriers (conductors). Female dogs will be diseased when they have two mutated x-chromosomes (one from the mother, one from the father). In that case both, father and mother must have the mutated x-chromosome (e.g. diseased male dog bred to conductor bitch). Description DNA test The mutation responsible for haemophilia A can now be identified using our DNA-test. The test can be performed on dogs of any age and even puppies can be tested. The DNA test does not only differentiate healthy and diseased dogs, but furthermore identifies healthy carrier (female) dogs. This is of crucial importance for dog breeders. To achieve a maximum reliability of the test result, we perform the DNA-test of each submitted sample in two independent test runs. Trait of Inheritance There are 3 possible genotypes: 1. Homozygous healthy: Genotype female: N(X)/N(X), Genotype male: N(X)/Y (homozygous healthy) A dog like this is healthy and does not carry the mutated x-chromosome. Offspring of this dog will not get the mutated x-chromosome. 2. Heterozygous carrier (only female): Genotype female: N(X)/FVIII(X) (heterozygous carrier) A bitch like this carries one copy of the mutated gene. It is unlikely that the bitch will suffer from haemophilia A, however there is a 50% chance that she will pass on the mutation to her offspring. 3. Homozygous affected: Genotype female FVIII(X)/FVIII(X) (homozygous affected) Genotype male FVIII(X)/Y (hemizygous affected) Because of the x-chromosomal mode of inheritance, a homozygous affected female dog carries two mutated x-chromosomes and a hemizygous affected male dog carries one mutated x-chromosome. Female and male affected dogs have a high risk to express haemophilia A. The bitch will pass on the mutation to a 100% of her offspring and 50% of the offspring of the male dog will get the mutated x-chromosome. Inheritance : X-LINKED RECESSIVE trait   Sire   Dam   Offspring         Males   Females clear clear 100% clear   100% clear               clear carrier 50%  clear + 50% affected   50%  clear + 50% carriers               clear affected 100% affected   100% carriers               affected clear 100%  clear   100%  carriers               affected carrier 50% affected + 50% clear   50% affected + 50% carriers               affected affected 100% affected   100% affected   Male: Clear Genotype: N [ normal ] The dog is noncarrier of the mutant gene. The dog will never develop Haemophilia A (factor VIII deficiency / F8 ) and therefore it can be used in breeding and should only be bred to clear females.   Affected Genotype: FVIII [ mutant ]   The dog carries the mutant gene and will pass it its entire female offspring. The dog will develop Haemophilia A (factor VIII deficiency / F8 ) and will pass the mutant gene to its entire female offspring Female: Clear Genotype: N / N [ Homozygous normal ] The dog is noncarrier of the mutant gene. The dog will never develop Haemophilia A (factor VIII deficiency / F8 ) and therefore it can be used in breeding and should only be bred to clear females.   Carrier Genotype: N / FVIII [ Heterozygous ] The dog carries one copy of the mutant gene and one copy of the normal gene. The dog will never develop Haemophilia A (factor VIII deficiency / F8 ) but since it carries the mutant gene, it can pass it on to its offspring.   Affected Genotype: FVIII / FVIII [ Homozygous mutant ]   The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring. The dog will develop Haemophilia A (factor VIII deficiency / F8 ) and will pass the mutant gene to its entire female offspring Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 2-3 weeks We will run this test 2 independant times on your sample to ensure that the result is 100% accurate   3 ) Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA) Breeds All Dog Breeds , American Cocker Spaniel , Basset Hound , Beagle , Bichon Frise , Cavalier King Charles Spaniel , Welsh Corgi (Cardigan) , Chesapeake Bay Retriever , Chihuahua , Coton de Tulear , Dachshund , Dandie Dinmont Terrier , English Springer Spaniel , French Bull Dog , Havanese - Bichon Havanese , Jack Russell Terrier , Miniature Poodle , Miniature Wire haired Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund , Nova Scotia Duck tolling Retriever ( NSDTR / Toller) , Papillon (Continental Toy Spaniel ) , Pekingese , Pembroke Welsh Corgi , Portuguese Waterdog , Scottish Terrier , Shih Tzu , Toy Poodle , West Highland White Terrier , Welsh Corgi . Description Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA) The test checks for two mutations: CDDY with IVDD Risk, and CDPA, and so you will receive two results, one for each mutation. Chondrodystrophy CDDY (FGF4-12) which causes short legs and the risk of developing Intervertebral Disc Disease (IVDD). Chondrodysplasia CDPA (FGF4-18), which causes the short legged phenotype in a number of breeds. Chondrodystrophy (CDDY with IVDD Risk) is a trait that is common to many dog breeds and it is characterised by shorter legs due to shorter long bones. CDDY can also be associated with Intervertebral Disc Disease (IVDD) due to premature degeneration of the intervertbral disc. The intervertebral disc lie between the vertebrae and it is made of a cartilage which separate vertebrae from each other, absorb shocks and allow slight movement of the vertebrae. In affected dogs, premature calcification of part of the disc at early age (from birth to 1 year of age) results in degeneration of all discs in young dogs. These abnormal discs are susceptible to herniation into the spinal canal where the inflammation, and hemorrhage can cause severe pain and neurological dysfunction. CDDY is inherited as a semi-dominant trait which means that dogs with 2 copies of the mutation are smaller than dogs with only 1 copy. As for IVDD, the inheritance follows a dominant mode, meaning that 1 copy of CDDY mutation is sufficient to predispose dogs to IVDD. The CDDY mutation has been found in breeds such as: Basset Hound, Beagle, Bichon Frise, Cardigan Welsh Corgi, Cavalier King Charles Spaniel, Chesapeake Bay Retriever, Chihuahua, American Cocker Spaniel, Coton de Tulear, Dachshund, Dandie Dinmont Terrier, English Springer Spaniel, French Bulldog, Havanese, Jack Russell Terrier, Nova Scotia Duck Tolling Retriever, Pekingese, Pembroke Welsh Corgi, Poodle (Miniature and Toy), Portuguese Water Dog, Scottish Terrier, Shih Tzu. The second mutation CDPA explains the short-legged phenotype known as chondrodysplasia (CDPA) in breeds such as Basset Hound, Pembroke Welsh Corgi, Dachshunds, West Highland White Terriers and Scottish Terriers. CDPA inheritance is considered to follow am autosomal dominant mode. In some breeds both mutations are present and so breeders will be able to plan breeding to reduce occurrence of CDDY, while retaining the short-legged phenotype CDPA.   Further reading FGF4 retrogene on CFA12 is responsible for CDDY and IVDD Phenotypic Effects of FGF4 on IVDD (2019) Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 1-3 weeks   4 ) Macrothrombocytopenia ( MTC-D ) Breeds American Cocker Spaniel , Bichon Frise , Boxer , Cavalier King Charles Spaniel , Cavapoo , Chihuahua , Cocker Spaniel , Dwarf poodle , English Cocker Spaniel , Havanese - Bichon Havanese , Jack Russell Terrier , Labrador Retriever , Maltese , Miniature Poodle , Parson Russell Terrier (PRT) , Poodle , Shih Tzu , Standard Poodle , Toy Poodle . Description Macrothrombocytopenia ( MTC ) is inherited as an autosomal dominant trait characterized by low platelet count and the presence of some larger than normal platelets in circulation. Unlike acquired macrothrombocytopenia (thrombocytopenias secondary to infectious agents, medications, immune-mediated causes), this form does not respond to treatment. It is important to note that these dogs may mistakenly be considered to have an underlying disease that results in thrombocytopenia, such as immune-mediated thrombocytopenia, tick-borne infection, or a bone marrow disorder. TC ) is inherited as an autosomal dominant trait and results can be Clear (N/N), Affected heterozygous (N / MTC), Affected homozygous (MTC / MTC) A RECESSIVE form of MTC is found in other breeds click on the following link for further details: Recessive Macrothrombocytopenia (MTC) . Trait of Inheritance . Inheritance : AUTOSOMAL DOMINANT trait   Further reading Macrothrombocytopenia in a Cavalier King Charles Spaniel Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 2-3 weeks   5 ) Furnishings Breeds All Dog Breeds , Barbet (French Water Dog) , Griffon Bruxellois (Brussels Griffon) , Chinese Crested , Dachshund , German Wirehaired Pointer , Havana Silk Dog , Havanese - Bichon Havanese , Hungarian Vizsla (Magyar Vizsla / Smooth haired) , Lagotto Romagnolo , Soft Coated Wheaten Terrier , Various dog breeds , Hungarian Wirehaired Vizsla (Vizslak) . Description Furnishings refer to the longer facial hair around the eyebrows, moustache, and beard commonly seen in many breeds, including the wirehaired breeds. Presence of furnishings is dominant to the unfurnished version of the gene, which depending on breed may also be referred to as satin, or sleek. LABOKLIN offers a test to see if a furnished dog carries the recessive unfurnished trait. This coat variant is called 'improper coat' in portuguese waterdogs. In Hungarian Wirehaired Vizsla (Vizslak) this it is called Wirehair.   Further reading Coat Colour Inheritance Charts Sample Requirements Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs. Turnaround 1-3 weeks Price for the above 5 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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