Rapid Whole Genome Sequencing
Rapid Whole Genome Sequencing
Rapid Whole Genome Sequencing (rWGS) is used to quickly identify the underlying genetic cause of unexplained medical conditions, allowing for personalized treatment plans and potentially avoiding unnecessary tests and procedures. Preliminary results will be available within 7 days. If needed, Sanger confirmation studies may take an additional 7-14 days.
Technical Information
rWGS 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. rWGS will also detect copy number variants (CNVs). Disease-associated sequence variants in the mitochondrial genome will be reported. rWGS will not detect trinucleotide repeat expansions, methylation abnormalities, balanced rearrangements, and some small exonic-level copy number changes.
Specimen Requirements
The preferred sample type is 1-2ml of peripheral blood for infants and 3-4 ml for adults, collected in an EDTA (purple top) tube. Extracted DNA is also accepted. Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
Blood kits are available by request.
Transport Instructions
The blood specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Extracted DNA should be sent at room temperature via overnight delivery.
Given the urgency of this testing, please notify the lab when a specimen is on the way.
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