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About Whole Exome Sequencing

Whole Exome Sequencing (WES) is a genetic test used to identify a heritable cause of a disorder. WES searches through all coding regions of all genes currently identified, yielding a high chance of finding the cause of a heritable disease. Whole exome testing can be used if a patient has symptoms which cannot be linked to a diagnosis and corrective treatment is desired to improve a patient’s prognosis. Once a pathogenic variant has been identified, this information can then be linked back to the phenotype of the patient to clarify the pathway to a correct diagnosis and the development of a suitable treatment plan. We offer two whole exome sequencing tests, the MNG Exome and the MNG Healthy Exome.

MNG Exome

The MNG Exome is a comprehensive exome sequencing test that searches through the protein coding region of all currently identified genes for disease-causing single nucleotide variants (SNVs), indels, and copy number changes. This test is used in situations where a patient’s symptoms are hard to classify in a single disease category.

The depth-of-coverage, uniformity of sequencing, and high reproducibility of our capture and sequencing methodologies allow for the identification of copy number changes through the Genome Manager® analysis pipeline. The MNG Exome covers all practice guideline and expert panel reviewed ClinVar pathogenic variants. These include variants located in intronic or intergenic regions, not covered by standard exome sequencing. In addition to sequencing, we provide copy number analysis and detection of uniparental disomy. 

In addition to sequencing the nuclear exome of the proband and additional family members, we also offer analysis of mtDNA using long-range PCR amplification and next-generation sequencing of the mitochondrial genome for the proband. 

All disease-causing mutations are confirmed using an alternative technology before reporting. It is important to note that this test currently does not report trinucleotide repeat expansions or genomic rearrangements. MNG does not report carrier status for the proband for diseases unrelated to the condition for which testing is ordered. Whole exome sequencing requires the submission of a signed consent form which must be signed by all parties.

The MNG STAT Exome™ delivers results within 10-14 days. It is designed for clinical situations (i.e. critically ill or NICU patients) where time is crucial to guide clinical management, and when a strong hypothesis cannot be formulated based on the clinical phenotype or the disease is believed to be genetically heterogeneous. All the same trusted features and coverage of the standard MNG Exome explained above are included. 

MNG Carrier Exome

MNG Carrier Exome is a novel test intended for prospective parents who are interested in a comprehensive review of their genetic background to better understand their risk of having children with rare autosomal recessive disorders. It is not intended for diagnostic purposes. This test is designed to detect rare, family, or sub-population specific variants that could have a deleterious effect in offspring and would be missed by currently available targeted carrier testing.

Rather than focusing solely on known pathogenic variants that are common in well characterized populations, the MNG Carrier Exome provides a wider range of coverage for those seeking a more thorough review of their genes.

Whole exome sequencing is performed on both partners to detect shared known pathogenic and predicted disruptive variants in genes that cause autosomal recessive disorders.

A single couple-specific report is issued containing detailed information about any variants detected.

MNG Healthy Exome

The MNG Healthy Exome is an innovative screening test that offers healthy individuals a comprehensive review of their genetic background. It will help the individual to better understand their risk of developing genetic disorders later in life or having children with rare autosomal recessive disorders.

This test is not intended for diagnostic purposes. It is intended for asymptomatic individuals who would like to use this information for family planning, preventing the development of life threatening diseases, or aid with their early detection and prognostication.