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Bernard-Soulier Syndrome (BSS)

Breed: English Cocker Spaniel

Generic Phene Data

Breeds

Relevance Rating: There is moderate evidence or research available in this breed

General

Disease Name
Bernard-Soulier Syndrome (BSS)
Mutation
the mutation will be presented in a future publication
Test Type
Genetic Disease/Disorder
Details
Bernard-Soulier syndrome (BSS): BSS is an autosomic recessive hereditary bleeding diatesis. The disease is currently considered rare, but may be frequently overlooked or misdiagnosed. Clinical signs include a lower than normal platelet count, platelets larger than average, and have an inherent defect which prevents plug formation leading to excessive bleeding. Owners have reported mucosal bleeding with unresponsive nose bleeding, melena, and blood in the urine. BSS may be life-threatening in certain situations, such as whelping or in cases of traumatic events or surgery. Laboratory exams may reveal a mild thrombocytopenia with ?giant platelets? (increased Mean Platelet Volume, MPV). BSS may easily be misdiagnosed with other platelet disorders, such as idiopathic or secondary immuno-mediated thrombocytopenia(IMT). (Edited from Genefast) This test may be useful both for diagnosis of BSS, and as a preventative measure to be used in breeding plans.
Published
TBC
Phene Discovery
An international collaborative research group made up of researchers from the University of Bologna, the University of Bern (Switzerland), Clinica Veterinaria San Marco of Padova and Genefast

Breed Specific Info

Researched Breeds
Cocker Spaniel

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
TBC
Mutation
TBC

BioBank AS

GTP Name
BioBank AS
Gene Name
TBC
Mutation
TBC

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
TBC
Mutation
TBC

CMSCH

GTP
GTP Name
CMSCH
Gene Name
TBC
Mutation
TBC

INNO

GTP
GTP Name
INNO
Gene Name
TBC
Mutation
TBC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
TBC
Mutation
TBC

Genefast s.r.l. (Laboratorio Genefast)

GTP Name
Genefast s.r.l. (Laboratorio Genefast)
Gene Name
TBC
Mutation
TBC
Nature of test
mutation test
Inheritance
AR

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
TBC
Mutation
TBC

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
TBC
Mutation
TBC

VHL Genetics

GTP Name
VHL Genetics
Gene Name
TBC
Mutation
TBC

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
TBC
Mutation
TBC
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