Test ID: WESR    
Whole Exome Sequencing Reanalysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test

 

Reanalyzing whole exome sequencing data when a patient (proband) presents with new clinical features

 

Reanalyzing whole exome sequencing data to pick up newly discovered gene-disease associations, changes to variant classification, and bioinformatics pipeline upgrades

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Whole exome sequencing utilizes next-generation sequencing to detect variants within the protein-coding regions of approximately 20,000 genes. In patients who have had negative or inconclusive whole exome sequencing results, reanalysis of previously generated whole exome sequencing data has the potential to identify additional variants associated with the patient’s phenotype and increase the diagnostic yield of this testing.

 

This test is available for patients who have previously had one of the following tests performed by Mayo Clinic Laboratories and would like reanalysis of the results.

Currently available assays:

WESDX / Whole Exome Sequencing for Hereditary Disorders, Varies

WESMT / Whole Exome and Mitochondrial Genome Sequencing, Varies

Previously available assays:

WES / Whole Exome Sequencing, Varies

WESPP / Whole Exome Sequencing Plus Pharmacogenomics

WESPM / Whole Exome Sequencing plus Whole Mitochondrial Genome Sequencing, Varies

 

It is recommended to wait at least one year after the original whole exome sequencing test results were released to request reanalysis, unless there are substantial changes to the patient’s phenotype.(1)

 

This test may be ordered by the provider who ordered the original whole exome sequencing test or by a new provider if the patient is currently under their care. If this test is ordered by a new provider, results will be sent only to the new provider. The provider who ordered the original whole exome sequencing test will receive an amended report stating that the original whole exome sequencing results are no longer current.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Reanalysis of Whole Exome Next-Generation Sequencing with Orthogonal Confirmation

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Whole Exome Sequencing Reanalysis

Aliases Lists additional common names for a test, as an aid in searching

Reanalysis
Re-analysis
Reanalyze
Reevaluation
Re-evaluation
Reevaluate
Rereview
Re-review
Exome
Exome Sequencing
Exon
Exons
WES
Whole
Whole exome
Whole-exome
Singleton
Duo
Trio
Quad
Non-traditional trio
Genome
Genomic
WESR
Next Gen Sequencing Test