Whole Genome Sequencing, Reanalysis
Whole Genome Sequencing, Reanalysis
Whole Genome Sequencing (WGS), Reanalysis is reanalysis of genome data previously generated at GGC. This test is indicated when the initial WGS test was normal or did not provide a complete diagnosis for the patient’s symptoms. A reanalysis can also be ordered when the proband presents with new or updated clinical findings. It is typically recommended to wait at least a year before doing a reanalysis of genome data unless there is an acute change in the patient’s presentation. A new test requisition form must be submitted with the updated clinical details.
Technical Information
Whole Genome Sequencing (WGS) detects single nucleotide variants (SNVs) within exonic regions, intronic regions, promoters, and 3’-UTRs. SNVs are only detected in intergenic regions if the variant has been previously reported. WGS will detect copy number variants (CNVs). Disease-associated sequence variants in the mitochondrial genome will also be reported. WGS will not detect trinucleotide repeat expansions, methylation abnormalities, balanced rearrangements, and some small exonic-level copy number changes.
Specimen Requirements
A new sample is not required for reanalysis.
Associated Tests
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC