Rhizomelic Chondrodysplasia Punctata
PrintDisease Name
Rhizomelic chondrodysplasia punctata
Disease Information
Rhizomelic chondrodysplasia punctata is associated with skeletal abnormalities, significantly delayed development and severe intellectual disability. Seizures, recurrent respiratory infections and life-threatening breathing problems are common and it is rare for affected children to live past age 10.
Test Description
The AmbrySCREEN Version2™ test for rhizomelic chondrodysplasia punctata includes specific mutation analysis for the following mutations: PEX7 (p.L292X, IVS9+1G>A, p.G217R, p.A218V). Individual full gene sequence analaysis is also available for this AmbrySCREEN Version2™ disease gene (PEX7).
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Tests