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Test Code: CHON
Description: Achondroplasia and hypochondroplasia are skeletal dysplasias leading to short stature. Both disorders are autosomal dominant and caused by mutations in the FGFR3 gene. Achondroplasia mutations 1138G>A and 1138G>C (accounting for >99%) and hypochondroplasia mutations 1620C>A and 1620 C>G (accounting for >70%) are identified by real-time PCR and target-specific probe dissociation analysis.


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