Whole Exome Sequencing–Additional Reanalysis

CPT: 81417
Updated on 01/9/2025

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 not to be used for a first reanalysis of Whole Exome Sequencing (WES) data. A charge for additional WES reanalysis may be applied. Please contact MNG Genetic Counselors at 844-664-8378 to discuss testing options prior to ordering. All test orders for Whole Exome include a prior authorization review. Prior authorization only services (no specimens submitted) are also available using Test No. 630489. Any additional or updated clinical information for the proband is encouraged. Please include any additional family testing that has been performed if outside of Labcorp or clinical details regarding newly affected family members.

To initiate a data reanalysis request, email the completed Data Reanalysis TRF to MNG Support Services at [email protected]. This test number is not to be used for a first reanalysis of Whole Exome Sequencing (WES) data. A charge for additional WES reanalysis may be applied. Please contact MNG Genetic Counselors at 844-664-8378 to discuss testing options prior to ordering. All test orders for Whole Exome include a prior authorization review. Prior Authorization Only services (no specimens submitted) are also available using test no. 630489. Any additional or updated clinical information for the proband is encouraged. Please include any additional family testing that has been performed if outside of Labcorp or clinical details regarding newly affected family members.

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 not to be used for a first reanalysis of Whole Exome Sequencing (WES) data. A charge for additional WES reanalysis may be applied. Please contact MNG Genetic Counselors at 844-664-8378 to discuss testing options prior to ordering. All test orders for Whole Exome include a prior authorization review. Prior authorization only services (no specimens submitted) are also available using Test No. 630489. Any additional or updated clinical information for the proband is encouraged. 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

42 days



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. We will accept requests for reanalysis at least one year 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 attained 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. PubMed 29595814
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
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. PubMed 29595814

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