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Diagnostic tests

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The presence of the trinucleotide repeats in FMR-1 is the basis of two diagnostic tests:

  • cytogenetic - culture of patients' cells in medium which inhibits folate metabolism results in breakage of the X chromosome at Xq27.3, within the CGG repeats

  • DNA - Southern blots will show the presence of an expanded series of CGG repeats

Note that it is generally felt that a diagnosis made or refuted before 1990 should not be trusted.

The question of when to test assymptomatic female siblings for their carrier status is difficult, and most areas have a local policy.

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