Cystinuria Type I-A
Breed: Newfoundland
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
GTPs
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
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Cystinuria (Newfoundland Type)
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
FCI Number
50
GTP Breed
Newfoundland
Animal Genetics Inc
GTP
GTP Name
Animal Genetics Inc
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
FCI Number
50
GTP Breed
Newfoundland
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
50
GTP Breed
Newfoundland
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR
FCI Number
50
GTP Breed
Newfoundland
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR
FCI Number
50
GTP Breed
Newfoundland
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a). Urolithiasis, formation of calculi (crystals, stones) in the urinary tract. Obstruction of the urinary tract and recurrent cystitis
Inheritance
AR
FCI Number
50
GTP Breed
Newfoundland
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Cystinuria (Newfoundland Type)
Gene Name
SLC3A1
Mutation
c.586C>T
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.856C>T
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SLC3A1
Mutation
c.586C>T
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR
FCI Number
50
GTP Breed
Newfoundland
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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
Application in the Breed
Carriers may be bred to normal animals (N/cys1a x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cys1a x N/cys1a) nor of affected animals (cys1a/cys1a)
Inheritance
AR
FCI Number
50
GTP Breed
Newfoundland
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Cystine uroliths, Cystinuria Type 1
GTP Disease Synonym
Cystine uroliths, Cystinuria Type 1
Gene Name
SLC3A1
Mutation
c.586C>T
Mutation Comment
g.46706001C>T
Nature of test
mutation test
FCI Number
50
GTP Breed
Newfoundland