Achondroplasia Common Mutation Test

Achondroplasia Screening

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.

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Coverage

Genes2Me screens the most common mutationsof FGFR3 gene and analysis yourrisk predispositiontowards Achondroplasia.

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It can be performedon Amniotic Fluid, CVS or bloodas the sample.

Who should be screened?

Individuals with short stature.

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Individuals with short stature.
Individuals with a large head and prominent forehead.
Abnormal ultrasound findings like short femur may indicate a risk for Achondroplasia.
Family history of affected achondroplasia members.