Whole Exome Sequencing
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.
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.
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.