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.
| Test Code | Test Name | TAT | Genes |
|---|---|---|---|
| Test Code: 9500 | Test Name: ExomeNext-Select |
TAT
|
up to 500
|
| Test Code: 9999R | Test Name: ExomeNext-Rapid® |
TAT
|
~ 20,000 |
| Test Code: 9997 | Test Name: Sequencing plus raw data only |
TAT
|
~ 20,000 |
| Test Code: 9998 | Test Name: Sequencing plus raw data and filtered variant list (no analysis) |
TAT
|
~ 20,000 |
| Test Code: 9993 | Test Name: ExomeNext-Proband™ |
TAT
|
~ 20,000 |
| Test Code: 9994 | Test Name: ExomeNext-Proband plus mtDNA |
TAT
|
~ 20,000 |
| Test Code: 9995 | Test Name: ExomeNext-Trio™ |
TAT
|
~ 20,000 |
| Test Code: 9996 | Test Name: ExomeNext-Trio plus mtDNA |
TAT
|
~ 20,000 |
| Test Code: 9991 | Test Name: ExomeNext-Duo™ |
TAT
|
~ 20,000 |
| Test Code: 9992 | Test Name: ExomeNext-Duo plus mtDNA |
TAT
|
~ 20,000 |
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 ListmtDNA Mutation List
Click on the link below to see list of mtDNA mutations that we cover.
View Mutations- AmbryPort Login or Create an Account
- Order a Sample Kit
We offer family variant testing at no additional cost
for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* 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 Ambry report date.
Order Now*excludes Secondary Findings and SNP Array tests
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.
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.