Undiagnosed monogenic disorder seen in a specialist genetics clinic

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Inclusion criteria:

A patient seen in a Clinical Genetics or other specialist Genetics clinic with a likely monogenic disorder for whom standard current testing has not identified a molecular cause and in whom whole genome sequencing is considered suitable as a next investigation by the consultant in charge.

Exclusion criteria:

Patients with conditions covered by existing eligibility categories should not be recruited using this category and should adhere to the existing recruitment guidelines.

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: As dictated by phenotype

Closing statement:

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

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