Whole Genome Sequencing Reanalysis, Varies

Casandra

Casandra Test Code MC56604Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID WGSRCPT Code 81427

Whole Genome Sequencing Reanalysis, Varies

Clinical Use

Use

This test is useful for identifying new diagnoses or additional variants associated with the phenotype in patients who previously had a negative or inconclusive whole genome sequencing test. It allows for reanalysis when a patient presents with new clinical features or to incorporate newly discovered gene-disease associations, changes to variant classifications, and updates to bioinformatics pipelines. This process aims to increase the diagnostic yield of whole genome sequencing.

Special Instructions

This test requires specific paperwork, including the Whole Genome Sequencing: Ordering Checklist. One form should be submitted per family to avoid testing delays. Additionally, it is suggested to wait at least one year after the original test unless there have been significant changes in the patient's condition.

Limitations

Whole genome sequencing may not capture all types of genomic variants, potentially leading to false-negative results. Technical limitations include regions with variable depth of coverage, homology, or repetitive sequences. Negative results do not exclude a genetic disorder diagnosis. False positives may occur but are rare due to confirmation of reportable variants using alternative methods. There might be unsuccessful detection of large mitochondrial genome deletions and duplications.

Test Details

New York Approved