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Pyruvate Kinase Deficiency PCR

Our pyruvate kinase deficiency test is based on pyrosequencing technology to provide accurate and reliable results.

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Cat

The Molecular Diagnostic Unit can now offer a genetic test to diagnose autosomal-recessive pyruvate kinase deficiency (PK Def) in cats. This genetic test is based on PCR that can reliably distinguish between affected, carrier and normal cats.

Pyruvate kinase deficiency is an inherited disease of Abyssinian and Somali cats. Pyruvate kinase is a red blood cell enzyme important in red blood cell energy metabolism. Therefore, if this enzyme is lacking, a haemolytic anaemia can result. However, the anaemia may only be mild and intermittently detectable, or may not become evident until the cat is older. A rapid severe life-threatening anaemia can also develop. The disease is inherited as an autosomal recessive trait, so only cats homozygous for the defective gene are affected. Heterozygous carrier cats are clinically healthy but can pass the defective gene to their offspring.

Until recently, diagnostic testing has only been available in laboratories in the USA. It is highly recommended that all Abyssinian and Somali cats used for breeding are tested for the defective gene, as well as cats of these breeds showing signs of haemolytic anaemia. For Somali cats, testing for PK Def is now compulsory if cats are to be registered on the GCCF (Governing Council of the Cat Fancy) active register and used for breeding. Confirmation of the cat’s identity is an essential part of the screening scheme, so veterinary surgeons and breeders must ensure that all cats that are to be included on the GCCF active register are micro-chipped, and that their chip number is recorded by the veterinary surgeon at the time that the cat is sampled. An FAB register is also in the process of being set up and will include the PK Def result of cats whose owners wish them to be on the register. The same microchip identification policy applies for the FAB register. For more information about PK Def and the FAB pyruvate kinase register please visit the FAB web-site or contact the FAB office (01747 871872).

Please note: For Inclusion on the GCCF Active Register and FAB pyruvate kinase register, the sample submitted for PK Def testing MUST be labelled with the cat's microchip number.

The assay requires either 0.5ml of EDTA anticoagulated blood or a mouth swab.

Cat breeds known to be affected by PK Def

  • Abyssinian
  • Somali
  • Singapura
  • Bengal - Please note, we can test Bengals for PK Def but we cannot test the Asian Leopard Cat due to sequence differences between domestic and wild cats

Interpretation of results

A Normal autosomal recessive PK Def genetic test result means that the cat does not have the genetic mutation causing pyruvate kinase deficiency.

A Heterozygous autosomal recessive PK Def genetic test result means that the cat has one copy of the mutation. The cat will not have pyruvate kinase deficiency, but may pass the mutation to their offspring.

A Homozygous autosomal recessive PK Def genetic test result means that the cat has two copies of the mutation. The cat will have pyruvate kinase deficiency.

Each certificate we issue will specify whether the cat is Normal, Heterozygous or Homozygous for the autosomal recessive pyruvate kinase mutation.

Update: In October 2010 we switched from using QPCR to detect the pyruvate kinase deficiency genetic mutation to using pyrosequencing. We have shown that this technology, which also uses PCR, is as reliable as QPCR in detecting cats that don't have, are carrying or are homozygous for the pyruvate kinase deficiency mutation.

Further information

 

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