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.
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