Whole Genome Reanalysis
Also known as: RWGS REA
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
SMARCB1
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
No new specimen is required to process this test; please release test order to ARUP upon order.
Other tests from different labs that may be relevant