WGS Reanalysis

Casandra

Casandra Test Code BA97580Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 1897CPT Code 81427

Clinical Use

Use

WGS Reanalysis is essential when previous Whole Genome Sequencing (WGS) has not provided a clear molecular diagnosis relevant to the patient's clinical context. Indications for reanalysis include new clinical information that may offer insights into the patient's disorder or the passage of significant time (over one year) since the last analysis. By utilizing the latest bioinformatics tools and knowledge, previously obtained sequencing data will be reevaluated against updated clinical features. A comprehensive reanalysis report will be generated to reflect these revised insights into the patient's genomic makeup.

Special Instructions

For optimal results, it is essential for patients to provide updated clinical information that may influence genetic interpretation. The reanalysis can only be performed on previously completed WGS; hence, identification of prior test codes is critical. Patients and physicians should consult the updated clinical guidelines and maintain consistent communication with our team throughout this process. We recommend obtaining a new requisition form when initiating a reanalysis request to facilitate workflow. Additionally, documentation related to any new phenotypic information or changes in clinical presentation should accompany the request.

Limitations

There are limitations associated with WGS reanalysis, particularly around the timing of previous analyses and completeness of phenotype information. If significant improvements or advances in bioinformatics methodologies have occurred since the last analysis, these may not be applied retrospectively to the earlier data. Additionally, the results are inherently tied to the availability and clarity of the patient's clinical phenotype at the time of reanalysis. It is crucial that patients understand that reanalyses may still yield inconclusive results.

Test Details

New York Approved