Primary lymphoedema

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Inclusion criteria

  • Lymphoedema of any extremity, face or genital area, AND
  • Lymphoscintigram (where available) suggestive of impaired lymphatic drainage (bilateral in lower limbs or upper limbs), AND
  • One or more of the following:
    • Family history of lymphoedema in a first or second degree relative
    • Bilateral involvement
    • Age of onset less than 40 years
    • Consanguineous parents

Exclusion criteria

  • Secondary lymphoedema
  • Previously identified causative mutation

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • Dependent on phenotype including consideration of FLT4, PIEZO1 or FOXC2

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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