Other names: Skeletal Dysplasia Syndrome, VDEGS, Skeletal Dysplasia Syndrome
Affected Gene: Scarf2
Inheritance: Autosomal Recessive
Mutation: CanFam3.1 26g.30237714_30237715del c.1873_1874del
OMIA link: 002016-9615
Appropriate breeds for testing: wirehaired fox terrier
References:
Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 May 17;12(5):e1006037
Van Den Ende-Gupta Syndrome (VDEGS, Scarf2)
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.