Our Tests

Our tests derive from a whole exome or whole genome backbone with the ability to select disease- or phenotype-specific gene panels. We enable multiple interpretations and multiple sequencing platforms to find the answer.

Types of Tests Available:

Whole Exome

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.

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Enhanced Whole Exome

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.

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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.

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