DNA test - PFK (Phosphofructokinase deficiency)

Details about the disease

PFK leads to a lack of the phosphofructokinase enzyme, without which muscle cells and red blood cells are unable to produce enough adequate energy for their needs.

Clinical signs

Intermittent clinical signs include weakness, lethargy (lack of energy), exercise intolerance, poor performance, muscle cramps, anaemia (reduced number of red blood cells), jaundice (yellowing of the skin or whites of the eyes) and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure.

How is it inherited?

The disease is described as an autosomal-recessive condition. This means that a dog must inherit two copies of an abnormal gene (one from its mother and one from its father) before its health is affected. A dog that inherits only one copy of the abnormal gene (from its mother or its father) will have no signs of the disease, but will be a carrier and may pass the gene on to any offspring.

Which laboratories test for this condition?

Two lists of laboratories that test for PFK can be found below.

Laboratories that send a copy of your dog's results straight to The Kennel Club, so you don't have to.
Laboratories Contact details

Kennel Club CombiBreed (UK)

Available as part of an all-on one health test package for English Springer Spaniels.

Read more about CombiBreed
AHT (UK)

 

The AHT closed down on 31 July and no longer offers this test.
Web: www.aht.org.uk

Animal Genetics (UK)

Phone: 01726 247788
Email: Animal Genetics
Web: www.animalgenetics.eu
Laboklin (UK) Phone: 0161 282 3066
Email: Laboklin
Web: www.laboklin.co.uk
Pet Genetics Lab (UK) Phone: 01624 679 720
Email: Pet Genetics Lab
Web: www.petgeneticslab.co.uk  

Where will your dog's results be published?

DNA test results from these laboratories are sent directly to The Kennel Club and are recorded on to the dog's record in the registration database, and are published:

Laboratories that do not send a copy of your dog's results to The Kennel Club. You'll need to do this yourself.
Laboratories Contact details
Genindexe (France) Email: Genindexe
Web: www.genindexe.com
MyDogDNA (Finland) Email: MyDogDNA
Web: www.mydogdna.com
HealthGene (Canada) Email: HealthGene
Web: www.healthgene.com
OFFA (USA) Email: OFFA
Web: www.ofa.org
Paw Print Genetics (USA) Email: Paw Print Genetics
Web: www.pawprintgenetics.com
PennGen (USA) Email: PennGen
Web: www.vet.upenn.edu/
Pinmoore Animal Lab Services (UK)

Phone: 01829 781855
Email: Pinmoore Animal Lab Services

Web: www.palsvetlab.co.uk

Van Haeringen (Holland) Email: Van Haeringen
Web: www.vhlgenetics.com
VetGen (USA)

Web: www.vetgen.com

How to submit DNA test results to The Kennel Club

The laboratories listed above do not send your dog's DNA test results to The Kennel Club. To have these results placed on your dog's record please submit them yourself by scanning and emailing them to our health results team.

What we require on the results certificate

Please note that we require at least two forms of identification on the result certificate. These must include the dog's microchip or tattoo number along with either the dog's registered name or registered number. Results without these details cannot be accepted by us.

Where will your dog's results be published once you have submitted them?

DNA test results received by The Kennel Club are recorded on to the dog's record in the registration database, and are published:

How to responsibly breed from your DNA-tested dog

If, once your dog is DNA tested, you would like to find out what their DNA test results mean, or how to select the right mate to avoid producing affected puppies, then please read our breeding advice and DNA testing information.

How to find out if a potential mate has been DNA tested

The Kennel Club’s Health Test Results Finder allows you to find the results of DNA tests carried out as part of The Kennel Club's official DNA testing schemes for any dog on The Kennel Club’s Breed Register.