ExomeNext® is a comprehensive test analyzing all ~20,000 genes, providing detailed information on novel discoveries to improve patient outcomes, up to three family members are tested at once.
Why Is This Important?
The world of genetics is rapidly changing. Most families undergoing exome analysis do not have a clear diagnosis. This family-centered approach to exome analysis, along with reliable data duration, has provided answers to many otherwise undiagnosed families.
When To Consider Testing?
- Prior testing has been negative: When a suspected condition has become a “diagnostic odyssey” and prior testing has not identified a genetic explanation
- No testing available: Limited or no comprehensive tests available for the patients suspected condition
- Unclear differential diagnosis: Clinical presentation does not correspond with a known genetic disorder or multiple genes may be involved
Test Method
- ExomeNext-Proband: This test includes whole exome sequencing of the Proband (patient of interest) using next generation sequencing methods targeted to the ~20,000 nuclear genes. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Alterations among Characterized genes are reviewed to determine pathogenicity and clinical correlation with the patient’s clinical symptoms. Relevant alterations that meet quality thresholds are reported. Family members may be used for co-segregation confirmation studies if submitted at the time of testing. Secondary findings are reported per patient preferences.
- ExomeNext-Proband plus mtDNA: This test includes whole exome sequencing of Proband (patient of interest) using next generation sequencing methods targeted to the ~20,000 nuclear genes. Sequencing of the mitochondrial (mtDNA) genome is also performed. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Alterations among Characterized genes are reviewed to determine pathogenicity and clinical correlation with the patient’s clinical symptoms. The mitochondrial genome is also analyzed for a defined list of established disease-causing mutations. Family members may be used for co-segregation confirmation studies if submitted at the time of testing. Relevant alterations that meet quality thresholds are reported. Secondary findings are reported per patient preferences.
- ExomeNext-Duo/Trio: This test includes whole exome sequencing of the Duo [Proband (patient of interest) plus one first-degree relative, usually one of the biological parent] or Trio [Proband (patient of interest) plus two first-degree relatives, usually the biological parents] using next generation sequencing methods targeted to the ~20,000 nuclear genes. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Each alteration is reviewed to determine its pathogenicity and clinical correlation with the patient’s clinical symptoms. Family members may be used for co-segregation confirmation studies. Relevant alterations that meet quality thresholds are reported. Secondary findings are available for all members of the duo/trio and reported per patient preferences.
- ExomeNext-Duo/Trio plus mtDNA: This test includes whole exome sequencing of the Duo [Proband (patient of interest) plus one first-degree relative, usually one of the biological parent)] or Trio [Proband (patient of interest) plus two first-degree relatives, usually the biological parents] using next generation sequencing methods targeted to the ~20,000 nuclear genes. Sequencing of the mitochondrial (mtDNA) genome is also performed. Genetic alterations are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Each alteration is reviewed to determine its pathogenicity and clinical correlation with the patient’s clinical symptoms. The mitochondrial genome is also analyzed for a defined list of established disease-causing mutations. Family members may be used for co-segregation confirmation studies. Relevant alterations that meet quality thresholds are reported. Secondary findings are available for all members of the duo/trio and reported per patient preferences.
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