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Pyruvate Kinase Deficiency

Breed: Beagle

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

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.994G>A
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
161
GTP Breed
Beagle

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Breed
Gene Name
PKLR
Mutation
c.994G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
J Vet Intern Med. 2012 Jul-Aug;26(4):935-44.

Genomia s.r.o

GTP Name
Genomia s.r.o
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.994G>A
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
161
GTP Breed
Beagle

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.994G>A
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle 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
161
GTP Breed
Beagle

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
161
GTP Breed
Beagle

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.994G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Gultekin GI, K Raj, P Foureman, S Lehman, K Manhart, O Abdulmalik, U Giger (2012) Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs. Journal of Veterinary Internal Medicine 26(4):935-944
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
161
GTP Breed
Beagle

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.994G>A
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
161
GTP Breed
Beagle

GenSol Diagnostics

GTP Name
GenSol Diagnostics
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.994G>A
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

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

DNA My Dog

GTP Name
DNA My Dog
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle 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
161
GTP Breed
Beagle

VetGen LLC

GTP Name
VetGen LLC
Breed
Gene Name
PKLR
Mutation
c.994G>A

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

INNO

GTP
GTP Name
INNO
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
Breed
GTP Disease Name
Pyruvate Kinase Deficiency (Beagle Type)
Gene Name
PKLR
Mutation
c.799C>T; c.848T>C; c.994G>A
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