Long-Read Sequencing, Duo Analysis

Long-Read Sequencing, Duo Analysis

Long-read sequencing (LRS), Duo Analysis is a comprehensive, phenotype-driven analysis of the genomic data from the proband and one parent to help determine the underlying genetic cause of a patient’s unexplained medical condition. This analysis can identify sequence variants, copy number variants, and structural variants. Identified sequence variants may be confirmed via Sanger sequencing or copy number variants by qPCR if needed as determined by the specific variant called.

The patient and/or patient’s guardian has the option to receive or not to receive information about the proband’s mitochondrial variants, trinucleotide repeat expansions, or changes that are considered secondary findings. These alterations will be confirmed with an orthogonal method as well. If the lab does not have clear consent to report these types of variants, then these will not be included in the final report.

Secondary findings will only be reported for the patient initially, and only known pathogenic variants or variants that are expected to harm the function of the gene will be reported. Only SNV analysis will be performed for secondary findings and mitochondrial variants. If a secondary finding is identified, parents may then elect to have the finding confirmed at no additional charge.

The duo analysis includes samples from the proband and one parent; a sibling sample may be submitted if a parent is unavailable, or if a sibling may be more informative. A separate consent and family studies form must be completed for each familial sample submitted in addition to the patient. Please contact the lab prior to sending a sibling sample.