Whole Genome Reanalysis

Casandra

Casandra Test Code AR60749Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3005939CPT Code 81427

Whole Genome Reanalysis

Also known as: RWGS REA

Clinical Use

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Use

Whole Genome Reanalysis is performed when previous genome analysis does not determine the etiology for a suspected genetic condition. The reanalysis uses the original genome sequencing data and applies updated bioinformatics pipelines and variant-calling to potentially identify causative variants related to the patient's clinical presentation. It helps in leveraging rapid advancements in understanding gene-disease relationships, making use of new population frequency data and any additional clinical findings. The test is intended for individuals who have previously undergone rapid whole genome sequencing at ARUP Laboratories and aims to identify previously unrecognized genetic factors influencing the patient's phenotype.

Special Instructions

This test is only offered for samples originally sequenced by ARUP Laboratories and no new specimen is required. A required Exome/Genome Reanalysis Patient History Form must be faxed to Genetic Counselors at 801-584-5236. This test is available for a fee and should be considered 12-18 months post initial sequencing if causative variants were not identified.

Limitations

A negative result does not exclude a genetic diagnosis due to the human genome's incomplete annotation and the technical limitations of sequencing technology. Although improvements with each reanalysis cycle may reveal new findings, some genomic regions remain challenging to interpret due to repetitive, homologous sequences or presence of pseudogenes. Variants in intergenic or regulatory regions, deep intronic alterations, and mitochondrial DNA are not analyzed. Large deletions, duplications, insertions, and low-level somatic variants associated with diseases are typically not detectable using this methodology. Changes affecting chromosomal phase may not be determined and incorrect reporting of biological family relationships may impact results.

Test Details