Malignant Hyperthermia
            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 
                
            
            
        
        General
        
            Disease Name
        
    
    
            Malignant Hyperthermia
            
        
        
        
            OMIA
        
    
    
            621
            
        
        
        
            Gene Name
        
    
    
            RYR1
            
        
        
        
            Mutation
        
    
    
            T to C substitution
            
        
        
        
            Mutation 2
        
    
    
            c.1640T>C
            
        
        
        
            Test Type
        
    
    
            Genetic Disease/Disorder
            
        
        
        
            Details
        
    
    
            Hyperthermia is a challenging condition as many dogs present as outwardly healthy. Affected dogs develop signs primarily in response to chemical triggers, worsened by stress. Symptoms include: hypercapnea, tachycardia, and hyperthermia during general anesthesia, progressing to: cardiac dysrhythmia, rhabdomyolysis, renal failure, and death. Although thought to be uncommon, it is difficult to estimate because dogs appear normal until exposed to a trigger, and may die before diagnosis.
            
        
        
        
            Details 2
        
    
    
            Hyperthermia is a challenging condition as many dogs present as outwardly healthy. Affected dogs develop signs primarily in response to chemical triggers, worsened by stress. Symptoms include: hypercapnea, tachycardia, and hyperthermia during general anesthesia, progressing to: cardiac dysrhythmia, rhabdomyolysis, renal failure, and death. Although thought to be uncommon, it is difficult to estimate because dogs appear normal until exposed to a trigger, and may die before diagnosis.
            
        
        
        
            Published
        
    
    
            Roberts, M.C., Mickelson, J.R., Patterson, E.E., Nelson, T.E., Armstrong, P.J., Brunson, D.B., Hogan, K. : Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1) Anesthesiology 95:716-725, 2001. Pubmed reference: 11575546.
            
        
        
        
            Published 2
        
    
    
            Adami, C., Axiak, S., Raith, K., Spadavecchia, C. : Unusual perianesthetic malignant hyperthermia in a dog. J Am Vet Med Assoc 240:450-3, 2012. Pubmed reference: 22309018. DOI: 10.2460/javma.240.4.450.
            
        
        
        
            Body/System/Process
        
    
    
            Muscular
            
        
        
        
            OMIA Url
        
    
    
        
            Inheritance
        
    
    
            AD
            
        
        Breed Specific Info
        
            Researched Breeds
        
    
    
            Collie, Doberman, English Springer Spaniel, German Shepherd Dog, Greyhound, Labrador Retriever, Pointer, Saint Bernard
            
        
        HSP Test-Specific Data
Agrotis S.r.l.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Agrotis S.r.l.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        BioBank AS
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            BioBank AS
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        Certagen GmbH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Certagen GmbH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        CMSCH
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            CMSCH
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        DNA My Dog
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            DNA My Dog
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Canine stress syndrome
            
        
        
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            This test is outsourced to:
        
    
    
            Orivet
            
        
        
        
            FCI Number
        
    
    
            -28
            
        
        
        
            GTP Breed
        
    
    
            Australian Labradoodle
            
        
        EVG Diagnostics
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            EVG Molecular Diagnostics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        INNO
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            INNO
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        Laboratorios Labocor S.L.
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Laboratorios Labocor S.L.
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        Orivet Genetic Pet Care
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Orivet Genetic Pet Care
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            GTP Disease Name
        
    
    
            Canine stress syndrome
            
        
        
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        
        
            Nature of test
        
    
    
            mutation test
            
        
        
        
            FCI Number
        
    
    
            -28
            
        
        
        
            GTP Breed
        
    
    
            Australian Labradoodle
            
        
        PharmaDNA
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            PharmaDNA
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        Progènes-ADN
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Progenes ADN
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        VHL Genetics/ Combibreed
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            VHL Genetics
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        Zoolyx
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            Zoolyx
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
        
            Gene Name
        
    
    
            RYR-1
            
        
        
        
            Mutation
        
    
    
            c.1640T>C
            
        
        AnimaLabs
        
            GTP
        
    
    
        
            GTP Name
        
    
    
            AnimaLabs
            
        
        
        
            Breed
        
    
    
        
            OMIA
        
    
    
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