Progressive Retinal Atrophy (PRA-prcd)
            Breed: Spanish Waterdog
        
        
        
        
    Generic Phene Data
        
            Breeds
        
    
    
                
                Relevance Rating: There is some evidence or research available  for these breeds 
                
                
                
            
            
            
                
                Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful  for these breeds 
                
                
                
            
            
        
        
        
            GTPs
        
    
    General
        
            Disease Name
        
    
    
            Progressive Retinal Atrophy (PRA-prcd)
            
        
        
        
            OMIA
        
    
    
            1298
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        
        
            Mutation 2
        
    
    
            G1298A
            
        
        
        
            Mutation 3
        
    
    
            c.2685delA
            
        
        
        
            Mutation 4
        
    
    
            c.2687_2688insTAGCTA
            
        
        
        
            Mutation Notes
        
    
    
            Test has been reported as being offered as a linkage/marker test, from some GTPs
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            PRA-prcd is progressive, and late-onset, where retina cells are lost slowly. This initially causes problems seeing in dim light, usually around ages 3-5, though diagnosis by an ophthalmologist can be earlier, around 1-2 years. It can progress to complete blindness is some dogs, but not all cases. This disease is seen in many breeds and crosses.
            
        
        
        
            Details 2
        
    
    
            Canine progressive rod-cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. An allelic disorders present in multiple breeds, and crosses of those breeds. Research strongly suggests that a common ancestor transmitted the prcd disease allele to many of the modern dog breeds. Diagnosis of prcd is based on a combination of clinical examination, including indirect ophthalmoscopy and electroretinography, and retinal morphology. Retinal photoreceptor abnormalities are visible in animals 14 weeks of age and older using high-resolution optical microscopy.
            
        
        
        
            Patents/ Licences
        
    
    
            Patent: OptiGen - US, CA, UK. (please note that patent and licensing laws and coverage vary by country)
            
        
        
        
            Published
        
    
    
            Zangerl, B., Goldstein, O., Philp, AR., Lindauer, SJ., Pearce-Kelling, SE., Mullins, RF., Graphodatsky, AS., Ripoll, D., Felix, JS., Stone, EM., Acland, GM., Aguirre, GD. : Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics :, 2006. Pubmed reference: 16938425. DOI: 10.1016/j.ygeno.2006.07.007.
            
        
        
        
            Published 2
        
    
    
            Aguirre, G., Alligood, J., O'Brien, P., Buyukmihci, N. : Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci 23:610-30, 1982. Pubmed reference: 6215376.
            
        
        
        
            Body/System/Process
        
    
    
            Eye
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            American cocker spaniel, Australian Cattle Dog, Australian Shepherd, Australian stumpy tail cattle dog, Chesapeake Bay Retriever, Chinese Crested Dog, English Cocker Spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden Retriever, Karelian bear dog, Kuvasz, Labrador Retriever, Lapponian Herder , Miniature Poodle, Norwegian Elkhound, Nova Scotia Duck Tolling retriever, Portuguese water dog, Spanish water dog, Swedish Lapphund, Toy Poodle, Yorkshire Terrier
            
        
        HSP Test-Specific Data
Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        Anicom Specialty Medical Institute Inc.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Anicom
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Progressive Retinal Atrophy, prcd
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            G1298A
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        Generatio GmbH Center for Animal Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Generatio GmbH Center for Animal Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Synonym
        
    
    
            PRA-prcd
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        
        
            Mutation Comment
        
    
    
            g.4188663C>T
            
        
        GenSol Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            GenSol Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Progressive Retinal Atrophy, prcd
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        Independent Veterinary Laboratory POISK
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Independent Veterinary Laboratory POISK
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Progressive Retinal Atrophy, prcd
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        Laboklin Gmbh & Co. KG
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboklin Gmbh & Co. KG
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Progressive Retinal Atrophy, prcd
            
        
        
        
            GTP Disease Synonym
        
    
    
            Progressive rod cone degeneration, PRA
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            336
            
        
        
        
            GTP Breed
        
    
    
            Spanish Waterdog
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        Paw Print Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Paw Print Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Progressive Retinal Atrophy, prcd
            
        
        
        
            GTP Disease Synonym
        
    
    
            Progressive rod cone degeneration, PRA
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            336
            
        
        
        
            GTP Breed
        
    
    
            Spanish Waterdog
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        The Royal Kennel Club
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            The Kennel Club
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Progressive Retinal Atrophy, prcd
            
        
        
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        
        
            This test is outsourced to:
        
    
    
            Weatherby's
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            prcd
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        Weatherbys Scientific
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Weatherbys Scientific
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            PRCD
            
        
        
        
            Mutation
        
    
    
            c.5G>A; G1298A
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
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