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Pyruvate Kinase Deficiency

Breed: Australian Cobberdog

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

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
PKLR
Mutation
c.799C>T

BioBank AS

GTP Name
BioBank AS
Gene Name
PKLR
Mutation
c.799C>T

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
PKLR
Mutation
c.799C>T

CMSCH

GTP
GTP Name
CMSCH
Gene Name
PKLR
Mutation
c.799C>T

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Pyruvate Kinase Deficiency (Labrador Retriever Type)
Gene Name
PKLR
Mutation
c.799C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
-27
GTP Breed
Australian Cobberdog

INNO

GTP
GTP Name
INNO
Gene Name
PKLR
Mutation
c.799C>T

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
PKLR
Mutation
c.799C>T

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Pyruvate Kinase Deficiency (Labrador Retriever Type)
Gene Name
PKLR
Mutation
c.799C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Inal Gultekin, G., Raj, K., Foureman, P., Lehman, S., Manhart, K., Abdulmalik, O. and Giger, U. (2012), Erythrocytic Pyruvate Kinase Mutations Causing Hemolytic Anemia, Osteosclerosis, and Secondary H
Application in the Breed
Carriers may be bred to normal animals (N/pk x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/pk x N/pk) nor of affected animals (pk/pk). Chronic severe hemolytic anemia, weakness, and hepatosplenomegaly. Bone marrow and liver failure in mature animals
Inheritance
AR
FCI Number
-27
GTP Breed
Australian Cobberdog

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
PKLR
Mutation
c.799C>T

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
Pyruvate Kinase Deficiency (Labrador Retriever Type)
Gene Name
PKLR
Mutation
c.799C>T

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
PKLR
Mutation
c.799C>T

VHL Genetics

GTP Name
VHL Genetics
Gene Name
PKLR
Mutation
c.799C>T

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
PKLR
Mutation
c.799C>T
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