Achondrogenesis Type 1B
This test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version 2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Disease Name
Achondrogenesis Type 1B
Disease Information
Achondrogenesis Type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward. Affected infants frequently have an umbilical or inuinal hernia.
Test Description
Specific mutation testing for SLC26A2 (p.R279W, c.-26+2T>C, p.C653S, p.V340del, p.R178X)
Genes
Tests