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Pyruvate Kinase Deficiency

Breed: West Highland White Terrier

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.1431_1432insAAGACC

BioBank AS

GTP Name
BioBank AS
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journa
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
85
GTP Breed
West Highland White Terrier

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

CMSCH

GTP
GTP Name
CMSCH
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

Embark

GTP
GTP Name
Embark
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journa
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
85
GTP Breed
West Highland White Terrier

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journa
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
85
GTP Breed
West Highland White Terrier

INNO

GTP
GTP Name
INNO
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
FCI Number
85
GTP Breed
West Highland White Terrier

Orthopedic Foundation for Animals

GTP Name
Orthopedic Foundation for Animals
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journa
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
85
GTP Breed
West Highland White Terrier

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
Insertion
Nature of test
mutation test
FCI Number
85

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Chapman BL, U Giger (1990) Inherited erythrocyte pyruvate kinase deficiency in the West Highland White Terrier. Journal of Small Animal Practice 31:610-616.
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
85
GTP Breed
West Highland White Terrier

VetGen LLC

GTP Name
VetGen LLC
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

VHL Genetics

GTP Name
VHL Genetics
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Pyruvate Kinase Deficiency (Terrier Type)
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
Nature of test
mutation test
GTP- or Breed-Specific Publications
Skelly, B.J., Wallace, M., Rajpurohit, Y.R., Wang, P., Giger, U. : Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency American Journa
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
85
GTP Breed
West Highland White Terrier

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
PKLR
Mutation
c.1431_1432insAAGACC
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