Dwarfism ACAN D1, D2, D3 IMPROVED, D4 + D5

Dwarfism is a form of abnormal development in size and stature. Chondrodysplastic dwarfism can be caused by mutations in the aggrecan (ACAN) gene. This gene encodes a proteoglycan essential for normal cartilage and bone development. Mutations in this gene lead to various forms of skeletal dysplasia, ranging in severity and clinical presentation. Currently there are five mutations known in the ACAN gene: D1, D2, D3*, D4 and D5. Based on scientific literature D1 has been flagged as the allele with the highest risk for early pregnancy loss or non-viable foals, while D2 would lead to the mildest forms of dwarfism.

This test covers all possible variants available in our webshop: ACAN D1, D2, D3*, D4, and D5. More information about the different mutations can be found at ‘Included tests’.