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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.