All-Seq is a proprietary, cutting-edge method with the potential to become the new standard of care in clinical testing for Autism Spectrum Disorder (ASD).
Developed by The Jackson Laboratory for Genomic Medicine (JAX-GM), All-Seq will be used to offer a single assay that enables detection of a broader range of genetic variations than is possible with current approaches, and does so in less time and at lower cost than current tests.
All-Seq will enable the detection of a broad range of genomic variations in a single assay, using state of the art, high-throughput sequencing technology.
All-Seq will identify:
copy number variations (CNVs)
single nucleotide variants (SNVs)
other important genomic structural variations (SVs) including inversion, transversions and translocations
These types of variants typically cannot be detected by the commonly used aCGH or targeted sequencing panels. All-Seq for ASD is currently completing its laboratory and clinical validation.
Over time, the clinical utility of an integrated approach like this can change the standard of care for ASD molecular diagnosis. Replacing aCGH and gene panel-based tests with a single assay will save time and money. It will also create a much richer data set that will have utility for patients and inform future efforts toward improving patient care.
Indeed, as integrated assays based on technologies like All-Seq are used, new clinically relevant mutations can be identified, added to the clinical genomics knowledgebase, and made available to doctors and their patients as their clinical relevance is uncovered.
JAX is working with clinical collaborators to evaluate this approach, retrospectively analyzing patient specimens to determine All-Seq’s power to detect variants across all classes of genomic diversity within the ASD population.