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 2-4 weeks  up to 500
Test Code: 9999R Test Name: ExomeNext-Rapid® TAT 14-18 days [1]  ~ 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  ~ 20,000
Test Code: 9994 Test Name: ExomeNext-Proband plus mtDNA TAT 6-8 weeks  ~ 20,000
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
Test Code: 9991 Test Name: ExomeNext-Duo™ TAT 6-8 weeks  ~ 20,000
Test Code: 9992 Test Name: ExomeNext-Duo plus mtDNA TAT 6-8 weeks  ~ 20,000
1. TAT is for trio exome orders with Blood EDTA specimens. TAT may be extended in rare instances when reruns are required. Non-trio orders and alternative specimen types may have extended TATs.;
ExomeNext Banner

ACMG Secondary Findings Gene List Compliance

Our exome panel includes all of the genes listed on the ACMG (American College of Medical Genetics and Genomics) gene list for the reporting of secondary findings. We remain up to date with the latest guidelines for genetic testing to strengthen patient medical management and health outcomes.

View ACMG Gene List

mtDNA Mutation List

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

View Mutations

Ordering Options

We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.

Order Now
Patient for Life Program

For patients undergoing this test, Ambry will continually review data for potential pathogenic or likely pathogenic variants in newly characterized genes and will proactively issue reclassification reports, as applicable. Ask your Genomic Science Liaison for more details.

Learn More


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-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.

View Full Menu

Patients

Providers

Partners

CARE

Science

Company

Search Results

Start your search...