Exome Sequencing
Our Exome Sequencing options are patient-centric, phenotype-driven analyses designed to examine coding regions and splice junctions for thousands of genes, and report only the variants that are of plausible clinical relevance to your patient. Family history and clinical information is required for all Exome orders. Clinical notes are reviewed by our curation team and used to generate the most comprehensive and personalized analysis for your patient. Trio analysis is also available and focuses on the proband of a familial trio (proband and parents).
Duo or trio analysis is offered at no extra cost
Clinical Exome
This option tests over 4,500 genes known to be associated with inherited conditions. This test is ideal for patients with a clinical presentation indicative of a genetic syndrome not specific enough to point to a single condition.

Panel Coverage: 96% at 20x Guaranteed
Deletion / Duplication: ≥ 2 exons
Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks
Whole Exome
This option tests over 20,000 genes throughout the human genome. This test is ideal for patients for whom previous focused testing has been negative or those who have a complex or very rare combination of phenotypes that are not suggestive of any recognizable syndrome.
Panel Coverage: 96% at 20x Guaranteed
Deletion / Duplication: ≥ 2 exons
Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks

Reflex Options
Exome sequencing is also offered as a reflex option. Reflex testing options are designed to broaden your patient's genetic analysis to exome sequencing when primary testing is non-diagnostic. Additional information on reflex options can be found here.

Chromosomal Sequencing Analysis
Chromosomal Sequencing Analysis (CSA) uses Next Generation Sequencing data to identify clinically significant copy number variants (CNV, deletions and duplications). This breakthrough allows for chromosomal microarray analysis (CMA) equivalent results using NGS.
CSA Comprehensive
This is a reflex option where the initial testing is a genome-wide search for multi-gene deletions and duplications. If this phase is non-diagnostic, whole exome sequencing with deletion/ duplication analysis (2-exon resolution) is performed.
  • Detects all clinically significant CNVs in ClinGen
  • UPD detection by AOH analysis for imprinted regions (5Mb resolution)
  • Whole Exome sequencing is included
  • Fragile X repeat expansion upon request
Sequencing Methods: Target Capture NGS
Orthogonal Methods: Sanger, qPCR, MLPA, rpPCR
Turnaround Time: 5-7 weeks

Mitochondrial Genome
The Mitochondrial Genome test is designed to examine all 37 mtDNA genes and utilizes overlapping primer sets to cover all 16,569 nucleotides. This analysis is performed by PCR amplification of mitochondrial DNA, followed by Next Generation Sequencing. This assay has been validated for the detection of mitochondrial DNA heteroplasmy at a minimum level of 2-5%.
The Mitochondrial Genome panel is also included within the Mito Comprehensive package. This package pairs Mitochondrial Genome testing with our standard Nuclear-Mito NGS Panel, offering comprehensive sequencing analysis of both nuclear-encoded mitochondrial genes and the mitochondrial genome itself.
Panel Coverage: 99% at 1000x Guaranteed
Deletion / Duplication: Available (call for more details)
Sequencing Methods: NGS
Orthogonal Methods: Sanger, qPCR, MLPA
Turnaround Time: 3-5 weeks