- Microtia affecting both ears (includes unilateral microtia with pre auricular tags or pits affecting the contralateral side)
- Normal microarray
- If pre auricular pits, renal scan and EYA1/SIX1 testing should be done
- Maternal diabetes
- Treacher-Collins syndrome and EFTUD2 clinically
- The following syndromes should also be excluded clinically, unless mutation analysis has been performed and is negative: LAMM syndrome (labrytinthine aplasia, microtia and microdontia), BOR syndrome, BOF syndrome, Fraser syndrome, Miller syndrome, Nager syndrome, LADD syndrome, Meier Gorlin syndrome and Townes Brocks syndrome.
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:
- Where the phenotype is recognisable and is caused by 1-2 principle genes, these should have been tested prior to recruitment
These requirements will be kept under continual review during the main programme and may be subject to change.