Other Names: Glycogen storage disease type II (Pompe's disease) Glycogen storage disease II, Pompe's disease, GSD II
Genes Affected: GAA
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 9g.1603730C>T c.2237G>A
OMIA link: 000419-9615
Appropriate breeds for testing: Finnish Lapphund, Swedish Lapphund
References:
Seppälä EH, Reuser AJ, Lohi H. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One. 2013;8(2):e56825
Glycogen Storage Disease II (GSDII) GAA Gene
C$65.00Price
5 tests et + 55$ch.
After your samples are received at the laboratory, please allow 10 to 15 business days for your results to be sent.