Molecular Genetic Analysis (Prenatal DNA Analysis)


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Subject: Molecular Genetic Analysis (Prenatal DNA Analysis)

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  • Molecular testing on fetal DNA to test directly for specific mutations or to assess closely linked markers for an unknown mutation


  • To assess mutational status for specific inherited diseases

  • Typically performed only when parents are affected or known carriers for disease


  • Direct testing assesses only particular targeted mutation(s) of interest

  • Linkage analysis, testing of a nearby genetic marker used when the particular mutation is unknown, is limited by potential recombination between the tested marker and the causal mutation.

  • Mitochondrial DNA testing may be problematic because the mutated mitochondrial mutation is likely to exist in combination with normal mitochondria (heteroplasmy).