This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Diagnostic tests

Authoring team

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.

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.