Laboratory Issues

Whenever it is necessary to determine whether a fetus has achondroplasia or thanatophoric dysplasia late in pregnancy, the laboratory normally tests for achondroplasia first (if doing so by restriction enzyme assays) because of the relative ease of detecting almost all cases of achon-droplasia. If the achondroplasia screen is negative, testing for the wider spectrum of mutations that can cause thanatophoric dysplasia is appropriate. If the original assay involved sequence analysis of exon 10 of FGFR3, most of the achondroplasia mutations and about half of the thanatophoric dysplasia mutations would be detected in this single assay.

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