Long-Read Sequencing, Targeted Analysis
Long-Read Sequencing, Targeted Analysis
Long-read sequencing, targeted analysis is a custom analysis for a specific gene or region that can detect sequence variants, copy number variants, and structural variants. Reported variants may be confirmed by an orthogonal method if needed as determined by the specific variant called. This test can be requested for up to 3 genes or regions. QUICK analysis is not available for long-read sequencing-based tests.
This targeted test is available for singleton analysis only. Please call the lab to confirm gene coverage or other limitations before ordering. Requests that include genes with a pseudogene may not be accepted.
Technical Information
Long-read sequencing (LRS) detects single nucleotide variants (SNVs) within exonic regions, intronic regions, promoters, and 3’-UTRs. SNVs are only reported in intergenic regions if the variant has been previously reported. LRS will detect copy number variants (CNVs) as well as structural variants such as inversions, insertions, and translocations. Methylation abnormalities will not be reported.
Specimen Requirements
The accepted sample type is 3-4 ml of fresh or frozen blood collected in an EDTA (purple top) tube. Ultra-high molecular weight DNA is required for long-read sequencing analysis and can only be extracted if specimen and transport requirements are met. Blood kits are available by request.
Transport Instructions
Ship the blood sample overnight in an insulated container with cold packs no colder than 4°C (refrigerated temperature). Incidental freezing and thawing due to cold packs cooler than 4°C may diminish DNA quality. Frozen blood should be shipped on dry ice.
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