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
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 | 11502-2 | ||
Order Code | 630800 | |||||
Order Code Name | Whole Exome Add'l Reanalysis | |||||
Order Loinc | 86205-2 | |||||
Result Code | 630802 | |||||
Result Code Name | WES Primary Result | |||||
UofM | ||||||
Result LOINC | 86205-2 | |||||
Order Code | 630800 | |||||
Order Code Name | Whole Exome Add'l Reanalysis | |||||
Order Loinc | 86205-2 | |||||
Result Code | 630803 | |||||
Result Code Name | WES Secondary Result | |||||
UofM | ||||||
Result LOINC | 50397-9 | |||||
Order Code | 630800 | |||||
Order Code Name | Whole Exome Add'l Reanalysis | |||||
Order Loinc | 86205-2 | |||||
Result Code | 630804 | |||||
Result Code Name | WES Interpretation | |||||
UofM | ||||||
Result LOINC | 77202-0 | |||||
Order Code | 630800 | |||||
Order Code Name | Whole Exome Add'l Reanalysis | |||||
Order Loinc | 86205-2 | |||||
Result Code | 630805 | |||||
Result Code Name | WES Footnotes | |||||
UofM | ||||||
Result LOINC | 77202-0 | |||||
Order Code | 630800 | |||||
Order Code Name | Whole Exome Add'l Reanalysis | |||||
Order Loinc | 86205-2 | |||||
Result Code | 630807 | |||||
Result Code Name | ||||||
UofM | ||||||
Result LOINC | 11502-2 |