Donate
Asymptomatic Macrothrombocytopenia
Breed: Cairn 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
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Zoolyx
GTP
GTP Name
Zoolyx
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
4
GTP Breed
Cairn Terrier
VHL Genetics
GTP
GTP Name
VHL Genetics
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
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
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
4
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
INNO
GTP
GTP Name
INNO
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
Certagen GmbH
GTP
GTP Name
Certagen GmbH
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
Application in the Breed
only c.5G>A mutation documented in this breed to my knowledge
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
TUBB1
Mutation
c.5G>A; c.745G>A
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
