Glycogen storage disease GSD II (Pompe disease)

LABOKLIN Service ID: 8513

Pompe disease is caused by the deficiency of glucosidase leading to abnormal storage of glucose in lysosomes. Affected dogs suffer from vomiting, progressive muscle weakness and loss of condition. Heart disease leads to death at about 1.5 years of age.

Method

TaqMan SNP assay, if necessary sequencing

Breed list

Finnish Lapponian Dog, Lapponian Herder, Swedish Lapphund

Heredity

autosomal recessive

Duration

3 - 5 days after arrival of the sample in the lab (in case of sequencing 1 - 2 weeks)