ExomeNext

The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all ~20,000 genes, providing detailed information on novel discoveries to improve patient outcomes.

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Test Code: 9999 Test Name: ExomeNext TAT 8-12 weeks  ~ 20,000
Test Code: 9500 Test Name: ExomeNext-Select TAT 8-12 weeks  up to 500
Test Code: 9999P Test Name: ExomeNext-Prenatal TAT 3-4 weeks  ~ 20,000
Test Code: 9999R Test Name: ExomeNext-Rapid TAT 8-14 days  ~ 20,000
Test Code: 9997 Test Name: Sequencing plus raw data only TAT 4-6 weeks  ~ 20,000
Test Code: 9998 Test Name: Sequencing plus raw data and filtered variant list (no analysis) TAT 4-6 weeks  ~ 20,000

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Why Is This Important?

The world of genetics is rapidly changing. ExomeNext is a comprehensive test analyzing all ~20,000 genes, where up to three family members are tested at once. 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 Description

ExomeNext includes sequencing of the exome using next generation sequencing methods targeted to the ~20,000 nuclear genes. Sequencing of the mitochondrial (mtDNA) genome is also performed. Sequencing of a trio of first-degree relatives occurs, which includes the patient of interest (proband) along with two first-degree relatives (usually the biological parents). 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 gene overlap with the patient’s clinical symptoms.  Candidate alterations are chosen for co-segregation analysis. The mitochondrial genome is also analyzed for characterized disease-causing mutations.  

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