Re-evaluating Exome and Genome Results
- Re-evaluation of Clinical Exome (CES), Whole Exome (WES) and Whole Genome Sequencing (WGS) reports of patients suffering from rare inherited disorders that have previously resulted in negative findings.
- Negative findings imply no variant(s) are found that likely explain the patient’s disorder or only one causative variant has been found in case of autosomal recessive disorder.
- Turnaround time: 20 days.
- New causative variants for genetic disorders are constantly being discovered. It is possible that when your sample was analyzed, this information was not available.
- Over 10% of unsolved cases analyzed after one year turn positive upon re-evaluation.
- Data is requested as raw Fastq and/or Bam files. No sample is required as we are not repeating the test.
- The findings are analyzed by technical experts for variants, confirmed by a medical expert / Human Geneticist and compiled as a research report.
- You are charged only if we are able to provide a causative variant - Pathogenic, Likely Pathogenic or strong Variant of Uncertain Significance.
- Confirmation of variants by Sanger Sequencing or any other method is not offered.