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Whole Exome Sequencing–Additional Reanalysis

CPT

81417

Test Details

Methodology

Reevaluation of previously attained exome sequence

Result Turnaround Time

42 days

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.

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%.

Special Instructions

To initiate a data reanalysis request, email the completed Data Reanalysis test request form (TRF) to MNG Support Services at MNGSupportServices@labcorp.com. 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.

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.

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
630800 Whole Exome Add'l Reanalysis 86205-2 630802 WES Primary Result 86205-2
630800 Whole Exome Add'l Reanalysis 86205-2 630803 WES Secondary Result 50397-9
630800 Whole Exome Add'l Reanalysis 86205-2 630804 WES Interpretation 77202-0
630800 Whole Exome Add'l Reanalysis 86205-2 630805 WES Footnotes 77202-0
630800 Whole Exome Add'l Reanalysis 86205-2 630807 PDF 11502-2
Order Code630800
Order Code NameWhole Exome Add'l Reanalysis
Order Loinc86205-2
Result Code630802
Result Code NameWES Primary Result
UofM
Result LOINC86205-2
Order Code630800
Order Code NameWhole Exome Add'l Reanalysis
Order Loinc86205-2
Result Code630803
Result Code NameWES Secondary Result
UofM
Result LOINC50397-9
Order Code630800
Order Code NameWhole Exome Add'l Reanalysis
Order Loinc86205-2
Result Code630804
Result Code NameWES Interpretation
UofM
Result LOINC77202-0
Order Code630800
Order Code NameWhole Exome Add'l Reanalysis
Order Loinc86205-2
Result Code630805
Result Code NameWES Footnotes
UofM
Result LOINC77202-0
Order Code630800
Order Code NameWhole Exome Add'l Reanalysis
Order Loinc86205-2
Result Code630807
Result Code NamePDF
UofM
Result LOINC11502-2