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Pyruvate Kinase Deficiency

Breed: Collies

Generic Phene Data

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
Pyruvate Kinase Deficiency
Mutation
c.799C>T
Mutation 2
c.848T>C
Test Type
Genetic Disease/Disorder
Details
Pyruvate Kinase Deficiency, now identified in a number of breeds, leads to chronic severe hemolytic anemia, weakness, and hepatosplenomegaly causing bone marrow and liver failure in mature animals.
Details 2
Pyruvate kinase (PK) deficiency is an autosomal, recessive, inherited disease of Basenjis that causes chronic, regenerative, hemolytic anemia. Diagnostic methods currently used to identify carrier animals rely on measurement of erythrocyte PK activity and frequently give equivocal results. A genetic test incorporating polymerase chain reaction amplification of genomic DNA and restriction fragment length polymorphism has been developed to determine the PK genotype of Basenjis. (Whitney et al, 1995)
Published
Whitney, K.M., Goodman, S.A., Bailey, E.M., Lothrop, C.D. : The molecular basis of canine pyruvate kinase deficiency Experimental Hematology 22:866-874, 1994. Pubmed reference: 7520391.

Breed Specific Data

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
PKLR
Mutation
c.433delC

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
PKLR
Mutation
c.433delC

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
PKLR
Mutation
c.433delC

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
PKLR
Mutation
c.433delC

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
PKLR
Mutation
c.433delC

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
PKLR
Mutation
c.433delC

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
PKLR
Mutation
c.433delC

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
PKLR
Mutation
c.433delC

DNA My Dog

GTP Name
DNA My Dog
Breed
Gene Name
PKLR
Mutation
c.433delC
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
-70
GTP Breed
Rough and Smooth Collie

INNO

GTP
GTP Name
INNO
Breed
Gene Name
PKLR
Mutation
c.433delC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
PKLR
Mutation
c.433delC

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
Gene Name
PKLR
Mutation
c.433delC
Nature of test
mutation test
FCI Number
-70
GTP Breed
Rough and Smooth Collie
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