Test Description

Testing with ExomeNext and ExomeReveal includes whole exome sequencing of ~20,000 nuclear genes using next generation sequencing methods. Genetic variants are filtered through our in-house bioinformatics pipeline and analyzed by our medical team. Filtering is performed based on inheritance models and HPO terms are applied manually to protect limited evidence genes or to increase the diagnostic yield in cases where phenotype is limited. Variants are reviewed to determine pathogenicity and clinical correlation with the patient’s clinical symptoms. Relevant variants that meet quality thresholds are reported. 

Exome testing can be ordered as a:

• Trio – Proband plus two close biological relatives, usually the parents
• Duo – Proband plus one close biological relative
• Proband only

Trio testing is recommended if relatives are available and consent to testing. Trio testing allows reporting of all ~20,000 genes, including relevant findings in uncharacterized genes. If a Proband or Duo is ordered, reporting will only include ~5,000 characterized genes.

If mitochondrial testing is selected, the mitochondrial genome is also analyzed for a defined list of established disease-causing variants.

Download Mitochondrial DNA Variant List

Exome testing includes analysis for secondary findings (SF) in the 81 genes recommended by American College of Medical Genetics and Genomics (ACMG) guidelines. These genes are related to conditions for which medical management is available to alter the course of the disease. Secondary findings are available for all members of the Duo/Trio and report separately for relatives. Patients can be opted out if preferred.

Download ACMG Secondary Findings List

When ExomeReveal is selected and a PAXgene tube blood sample is included, testing includes supplemental RNA analysis for qualified variants expected to impact splicing. RNA analysis reports 3-4 weeks after initial DNA test results.

Exome sequencing: Recommended by clinical guidelines

Many professional societies recommend exome sequencing as a first-line test, which can be ordered as soon as symptoms or features are identified.

The American Academy of Pediatrics (AAP) recommends exome/genome sequencing as first-tier testing for¹:

• Global Developmental Delay
• Intellectual Disability

Read the updated 2025 guidance

The American College of Medical Genetics and Genomics (ACMG) recommends exome sequencing as a first-tier test for²: 

• Developmental Delay
• Intellectual Disability
• Congenital Anomalies

Read the guidelines  

The National Society of Genetic Counselors (NSGC) and American Epilepsy Society (AES) recommend exome or genome sequencing for individuals with³: 

• Unexplained Epilepsy

Read the guidelines

References: 

¹Rodan LH, Stoler J, Chen E, et al. Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219 

²Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029–2037. doi:10.1038/s41436-021-01242-6 

³Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266–280. doi:10.1002/jgc4.1646