Balanced translocations with an unusual phenotype


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 Inclusion criteria:

  • De novo translocation where extreme phenotype present
  • Familial balanced translation that co-segregates with disease
  • Routine investigations pertaining to the presenting phenotype have been carried out with normal results
  • Genome-wide copy number variant testing has demonstrated no significant genomic rearrangement at the break points

 Exclusion criteria:

  • Genome-wide copy number variant 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:

  • Genome-wide copy number variant analysis (e.g. aCGH, SNP array or other genomic microarray)

Closing statement

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

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