Achondroplasia literally means "without cartilage formation." It is a genetic disorderwhich leads to common type of short-limbed dwarfismand is caused due to mutations in FGFR3 gene. Achondroplasia is inherited in an autosomal dominantpattern, which means one copy of thealtered gene in each cell is sufficientto cause the disorder.
Genes2Me screens the most common mutationsof FGFR3 gene and analysis yourrisk predispositiontowards Achondroplasia.
It can be performedon Amniotic Fluid, CVS or bloodas the sample.
Individuals with short stature.
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