Molecular Testing for Achondroplasia
Achondroplasia, or dwarfism, has an incidence of 1 in 25,000 births.
In 85% of cases, it arises as a sporadic mutation, often associated with advanced paternal age. In other cases, it may be inherited as an autosomal dominant genetic disorder, caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene located on chromosome 4, leading to abnormal skeletal development during embryogenesis.
The test detects two specific FGFR3 mutations (1138G>A, 1138G>C), covering 99% of achondroplasia cases.
Sample Type: Peripheral blood, amniotic fluid, chorionic villi
Turnaround Time: 1 week