Exome sequencing delivers a comprehensive and highly accurate view of your genetic makeup offering a far greater diagnostic success rate than standard multigene panels or chromosomal microarray testing.
70% of genetic conditions appear during childhood, yet many families face years of uncertainty before receiving answers. On average:
Every day without a diagnosis means lost time—and missed opportunities for timely treatment. Early access to genetic insights can:
Leading medical organizations recommend exome sequencing as a first-line approach:
The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome sequencing as a first-line test for individuals with developmental delays, intellectual disability, or congenital anomalies.
The National Society of Genetic Counselors, with endorsement from the American Epilepsy Society, advises exome or genome sequencing for all individuals with unexplained epilepsy.
| Developmental Delay / Intellectual Disability | Epilepsy | Autism Spectrum Disorder | |
|---|---|---|---|
| Exome Sequencing | 36% ⁴ | 24% ⁵ | 16% ⁶ |
| Multigene Panels | 20-30% ⁸·⁹ | 19% ¹³ | 3-10% ¹⁴ |
| Chromosomal Microarray | 10-20% ¹⁰ | 9% ¹² | 3% ⁷ |
| FMR1 | 0.45% ¹¹ | N/A | 1% ¹⁴ |
Join healthcare organizations nationwide that are improving patient outcomes and efficiency with Avintis Diagnostics advanced exome and genome testing solutions.
Covers ~20,000 protein-coding genes to detect genetic variants related to your condition. Available in proband (patient only), duo (patient + one parent), or trio (patient + both parents).
Turnaround: 5 weeks*
Adds mitochondrial genome analysis to standard exome sequencing—ideal for patients with suspected mitochondrial disorders.
Separate reports provided for each test.
Turnaround: 5 weeks*
A rapid version of our standard exome test for critically ill patients who need answers fast.
Provisional results in 7 days, full report in 2 weeks*