NB. Clinical test guidance:
Imaging diagnostsics refers to MRI brain and/or medical photographs of facial features and other physical features as appropriate
- Moderate to Severe/ Profound ID disproportionate to parental IQ unless the family history is consistent with an X-linked disorder
- Congenital onset
- Developmental Delay
- +/- clinical features suggestive of a specific syndrome
- Metabolic causes have been excluded
- Antenatal history suggestive of non-genetic cause
- Proven congenital or neonatal infections
- Known genetic cause already identified
- Microarray analysis abnormal and clearly pathogenic
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:
- For syndromes where the cause of disease is 1-2 genes these need to be excluded before Genomics England recruitment, e.g. for Kabuki syndrome, MLL2 (KMT2D) and KDM6A should have been tested
These requirements will be kept under continual review during the main programme and may be subject to change.