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Asymptomatic Macrothrombocytopenia
Breed: Norfolk Terrier
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
Asymptomatic Macrothrombocytopenia
OMIA
1001
Gene Name
TUBB1
Mutation
c.5G>A
Mutation 2
c.745G>A
Test Type
Genetic Disease/Disorder
Details
This disorder occurs in many different forms, many of which are not inherited. Characterised by low platelet count, and problems with platelet production as well as premature destruction.
Details 2
This disorder occurs in many different forms, many of which are not inherited. Characterised by low platelet count, and problems with platelet production as well as premature destruction. Rapid platelet consumption is often observed in acute haemorrhage, disseminated intravascular coagulation, or inflammation.
Published
Davis, B., Toivio-Kinnucan, M., Schuller, S., Boudreaux, MK. : Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. J Vet Intern Med 22:540-5, 2008. Pubmed reference: 18466252. DOI: 10.1111/j.1939-1676.2008.0085.x.
Published 2
Gelain,Bertazzolo, Tutino, Pogliani, Cian, Boudreaux: A novel point mutation in the ?1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers Veterinary Clinical Pathology 07/2014
Body/System/Process
Blood
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Cairn Terrier, Cavalier King Charles Spaniel, Norfolk terrier
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Macrothrombocytopenia
Gene Name
TUBB1
Mutation
c.5G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gelain,Bertazzolo, Tutino, Pogliani, Cian, Boudreaux: A novel point mutation in the ?1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers Veterinary Clinical Pathology 07/20
Application in the Breed
Carriers may be bred to normal animals (N/am x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/am x N/am) nor of affected animals (am/am)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
272
GTP Breed
Norfolk Terrier
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Macrothrombocytopenia
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Nature of test
mutation test
FCI Number
272
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Macrothrombocytopenia
Gene Name
TUBB1
Mutation
c.5G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gelain,Bertazzolo, Tutino, Pogliani, Cian, Boudreaux: A novel point mutation in the ?1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers Veterinary Clinical Pathology 07/20
Application in the Breed
Carriers may be bred to normal animals (N/am x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/am x N/am) nor of affected animals (am/am)
Inheritance
AR
FCI Number
272
GTP Breed
Norfolk Terrier
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
TUBB1
Mutation
c.745G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Macrothrombocytopenia
Gene Name
TUBB1
Mutation
c.745G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gelain,Bertazzolo, Tutino, Pogliani, Cian, Boudreaux: A novel point mutation in the ?1-tubulin gene in asymptomatic macrothrombocytopenic Norfolk and Cairn Terriers Veterinary Clinical Pathology 07/20
Application in the Breed
Carriers may be bred to normal animals (N/am x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/am x N/am) nor of affected animals (am/am)
Inheritance
AR
FCI Number
272
GTP Breed
Norfolk Terrier
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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