Re-evaluating Exome and Genome Results
Re-evaluating Exome and Genome Results
Re-evaluating Exome and Genome Results

Re-evaluating Exome and Genome Results

Non-returnable
Rs.10,000.00 - Rs.40,000.00
If you received a negative report (no pathogenic or likely pathogenic variant found) for your Clinical Exome Sequencing (CES), Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) test from a laboratory, we offer the service of re-evaluating the data.

You are charged only if we are able to find a clinically relevant variant.

The service is offered through a collaboration with our expert partners in Germany, Mimamsia GmbH
Re-evaluation or second opinion of
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Product Details

- 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.

- The Mimamsia Request and Consent Form is available here.

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