Help us fight disease and injury in animals

DNA Test for Phosphofructokinase in English Springer Spaniels

The genetic defect underlying phosphofructokinase deficiency in English Springer Spaniels has been identified by research groups at the University of Pennsylvania. It is a tiny change (point mutation) in the M-type phosphofructokinase gene. The DNA test involves determining the sequence (ie the structure) of the gene in the critical region by amplifying the part of the gene containing the mutation using the polymerase chain reaction.

This disorder shows an autosomal recessive mode of inheritance, and has also been shown to be present in American Cocker Spaniels.

Samples submitted should be cheek swabs ( a non-invasive sampling method).  Sampling kits are obtainable from the Animal Health Trust webshop www.ahtdnatesting.co.uk/canine_tests. Further information can be obtained by emailing dnatesting@aht.org.uk