Achondroplasia/Hypochondroplasia Variant Analysis

Test Background

Targeted mutation analysis is used to detect the c.1138G>A and c.1138G>C mutations in FGFR3, which cause the same amino acid substitution resulting in achondroplasia, and c.1620C>A and c.1620C>G, which cause the same amino acid substitution resulting in hypochondroplasia. This test does not rule out the possibility of other mutations in the FGFR3 gene. This laboratory performs targeted mutation analysis for these two mutations in FGFR3, which are associated with achondroplasia and hypochondroplasia.

Disorder(s)

Achondroplasia

Gene(s)

FGFR3

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

Now is the time to integrate genomics into clinical practice to inform, guide and improve medical treatment for kids around the world.