Variant Clarification
SOLUTIONS
Variant Clarification
Variants of unknown significance (VUS) are commonly encountered in genetic testing. As many as 73% of patients undergoing whole exome sequencing have at least one reported VUS (Mighton et al, 2021; PMID: 32921787). VUS results are particularly challenging for both clinicians and patients and it is critically important to determine their significance as quickly as possible to manage health and well-being.
Alamya Health offers three advanced solutions to facilitate more accurate variant classification.
For more information regarding any of these tests, please contact us at info@alamyahealth.com or (628) 203-5690. We strive to address your testing requirements by tailoring the variant clarification testing to your patient’s and/or project’s needs.
Transcriptome Sequencing
Transcriptome sequencing, also known as RNA-seq, is a powerful addition to genetic testing. It has been reported to significantly enhance the diagnostic rate (by 7.5%–36%) depending on the clinical phenotype and tissue sample. RNA-seq aids in prioritizing and resolving VUS (Murdock et al, 2021; PMID: 33001864).
DNA Methylation Signature Detection
Epigenetic alterations are observed in many congenital disorders, particularly neurodevelopmental disorders. For variants in genes encoding or impacting epigenetic regulators and associated with the clinical findings, DNA methylation is assessed to guide interpretation of potential pathogenicity. This approach focuses on genes with well-established epigenetic signatures and for which the presence of a unique signature can indicate the presence of a pathogenic variant and thereby, reclassify a VUS.
Long-read whole genome sequencing
Research-grade Nanopore long-read (LR) whole genome sequencing to clarify reported variants.