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.

Quick Reference
Test Code: 9500 Test Name: ExomeNext-Select TAT 3-5 weeks  up to 500
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
Test Code: 9993 Test Name: ExomeNext-Proband TAT 6-8 weeks  ~ 5,000
Test Code: 9994 Test Name: ExomeNext-Proband plus mtDNA TAT 6-8 weeks  ~ 5,000
Test Code: 9995 Test Name: ExomeNext-Trio TAT 6-8 weeks  ~ 20,000
Test Code: 9996 Test Name: ExomeNext-Trio plus mtDNA TAT 6-8 weeks  ~ 20,000

mtDNA Mutation List

Click on the link below to see list of mtDNA mutations that we cover.

View Mutations

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Whole Exome and SNP Array tests

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-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-Trio:  This test includes whole exome sequencing of the 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 trio and reported per patient preferences.

ExomeNext-Trio plus mtDNA: This test includes whole exome sequencing of the 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 trio and reported per patient preferences.

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