Cystinuria Type I-A
            Breed: Australian Labradoodle
        
        
        
        
    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 
                
            
            
            
                
                Relevance Rating:  All current available evidence has been reviewed, but relevancy is inconclusive, AND/OR the clinical form of this disease has never been seen  for these breeds 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Cystinuria Type I-A
            
        
        
        
            OMIA
        
    
    
            256
            
        
        
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Gene Name 2
        
    
    
            SLC7A9
            
        
        
        
            Mutation
        
    
    
            c.350delG
            
        
        
        
            Mutation 2
        
    
    
            c.586C>T
            
        
        
        
            Mutation 3
        
    
    
            c.1095_1100del
            
        
        
        
            Mutation 4
        
    
    
            c.574A>g; c.2091A>G
            
        
        
        
            Mutation 6
        
    
    
            c.649G>A
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Cystinuria is disorder that affects a dog's ability to filter cystine out of urine. Cystine is generally insoluble in the acidic conditions of canine urine, allowing it to crystallize and form caliculi, also known as stones. Not every dog that has the mutation responsible for Cystinuria will exhibit symptoms. Stones causing inflammation and blockage are often more common in males, due to their long, narrow urethra. Females exhibit symptoms much less frequently and may never show signs of disease. In many breeds, symptoms are first noted at around 4-5 years. However, Newfoundlands carry a more severe form that other breeds, with problems developing and noticed at 6-12 months. Newfoundlands are much more likely to experience recurring urethral blockages, and require surgical intervention. Please note that the tests, and type of inheritance, and mutations for Cystinuria vary by breed. It is important to choose a test appropriate for your breed/type.
            
        
        
        
            Details 2
        
    
    
            Presenting signs include recurrent cystitis, hematuria, and stranguria. Calculi may become lodged in the urinary bladder, urethra, or kidney, causing partial or complete urinary blockage. A relatively earlier age of onset has been identified in Newfoundlands compared to other breeds that develop cystinuria. Diagnosis is achieved by identifying characteristically hexagonal cystine crystals in urine sediment, or cystine calculi in stone analysis. Metabolic screening tests on urine (cyanide nitroprusside test, amino acid chromatography or amino acid quantification) can detect cystinuria before or after clinical onset. Since cystine easily precipitates in acidic urine to form uroliths, treatment includes alkalinization of the urine, high fluid intake, and drugs that increase cystine solubility (Harnevik et al., 2006)
            
        
        
        
            Published
        
    
    
            Henthorn, P.S., Liu, J.L., Gidalevich, T., Fang, J.K., Casal, M.L., Patterson, D.F., Giger, U. : Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs Human Genetics 107:295-303, 2000. Pubmed reference: 11129328.
            
        
        
        
            Published 2
        
    
    
            Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. : SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348. DOI: 10.1111/jvim.12176.
            
        
        
        
            Body/System/Process
        
    
    
            Renal
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AR
            
        
        HSP Test-Specific Data
Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Genomia s.r.o
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Genomia s.r.o
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            c.350del
            
        
        
        
            Mutation Comment
        
    
    
            g.46700948del
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Paw Print Genetics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Paw Print Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Cystinuria (Labrador Retriever Type)
            
        
        
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            -28
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Independent Veterinary Laboratory POISK
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Independent Veterinary Laboratory POISK
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Cystinuria (Labrador Retriever Type)
            
        
        
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        VetGen LLC
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VetGen LLC
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            c.350delG
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            SLC3A1
            
        
        
        
            Mutation
        
    
    
            Deletion
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
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