Whole Exome Sequencing – First Reanalysis

TEST: 630635
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CPT: To be determined. Updates will be made when available.
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Special Instructions

To initiate a data reanalysis request, email the completed Data Reanalysis test request form (TRF) to MNG Support Services at [email protected].

This test number is to be used for the first reanalysis of Whole Exome Sequencing (WES) data. A charge for the first WES reanalysis will not be applied. Please contact MNG Genetic Counselors at 844-664-8378 to discuss testing options prior to ordering. Please submit additional or updated clinical information for the proband. Please include any additional family testing that has been performed if outside of Labcorp, or clinical details regarding newly affected family members.

Expected Turnaround Time

6 weeks

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Test Details

Use

Reanalysis of previously obtained WES data is used to increase diagnostic sensitivity when the initial testing did not identify causal variants. Factors that contribute to diagnostic success include the presence of new or evolving clinical symptoms in the proband, improved bioinformatics pipelines and the publication of new disease genes. Reanalysis is available one year or more after initial WES testing. Studies have shown that reanalysis of an undiagnosed individual at a 12-month time point may increase the diagnostic rate by 11%.

Limitations

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Reevaluation of previously obtained Exome sequence

References

Ewans LJ, Schofield D, Shrestha R, et al. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. Genet Med. 2018 Dec;20(12):1564-1574.29595814

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