Whole Exome Sequencing Reanalysis, Varies

Casandra

Casandra Test Code MC72148Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID WESRCPT Code 81417

Whole Exome Sequencing Reanalysis, Varies

Clinical Use

Use

This test is used for identifying a diagnosis or additional variants in patients who previously had negative or inconclusive whole exome sequencing results. It allows for reanalysis of whole exome sequencing data when new clinical features present in a patient (proband) or when new gene-disease associations are discovered. The reanalysis increases the diagnostic yield of whole exome sequencing by finding additional variants associated with the patient's phenotype.

Special Instructions

This test requires specific paperwork to proceed. Fill out and submit the Whole Exome Sequencing: Ordering Checklist to avoid testing delays. This test is only for patients who previously underwent a specific whole exome sequencing test performed by Mayo Clinic Laboratories.

Limitations

Whole exome sequencing may not detect all types of genomic variants. Technical limitations include regions of homology, high GC content, and repetitive sequences, which can affect evaluation. False negative or positive results may occur, and the test is not designed to detect low levels of mosaicism or distinguish between somatic and germline variants. It may not effectively evaluate certain regions of genes, and alternative methods might be needed for specific disorders.

Test Details

New York Approved