Deep legacy of diagnosing CNS disorders using WGS and WES
Who We Are
QnA Dx is a CLIA/ISO-15189 accredited clinical sequencing laboratory located in Cambridge, MA. We are a subsidiary of Q-State Biosciences, a precision medicine company working to develop genetically targeted and transformative therapies for severe disorders of the nervous system.
Types of Tests Available:
DUAL SEQUENCING PLATFORMS MISS FEWER VARIANTS.
We use Illumina sequencing and supplement with the Ion Torrent AmpliSeq Exome. Orthogonal dual platform sequencing provides confidence that fewer regions of the exome are missed during analysis than either platform alone. Exome sequencing results are reported phenotypically based on the patient’s medical record.
A COMPREHENSIVE EXOME BASED ON WHOLE GENOME SEQUENCING.
We use Illumina whole genome sequencing to filter for the whole exome and enhance the exome results by including the analysis of copy number variants, repeat expansions, and structural variants in the exome overlapping regions. Enhanced exome sequencing results are reported phenotypically based on the patient’s medical record.
Enhanced Gene Panels
DISEASE-SPECIFIC PANELS DERIVED FROM THE ENHANCED EXOME.
We use Illumina whole genome sequencing, filtering by disease-specific gene panels and enhancing those results by including the analysis of copy number variants, repeat expansions, and structural variants in the regions overlapping the gene panel. Gene panels are most useful when a patient is highly likely to be diagnosed based on a pre-defined gene list. Our sequence once and analyze often platform approach allows us to re-analyze negative gene panel results for the whole exome without incurring resequencing costs.