Find answers with exome
One test. Big picture. Brighter futures.
Exome sequencing is more likely to deliver a genetic diagnosis than multigene panels or chromosomal microarray.
Every day without a genetic diagnosis is a missed opportunity
change medical management
result in more timely treatment options
reduce medical interventions
identify resources and support for parents and family members
An earlier genetic diagnosis is proven to:
70% of genetic disorders start in childhood. Yet, on average, a patient searching for a diagnosis:
waits up to 5 years
undergoes 5 uninformative medical tests
incurs $10,000 in healthcare costs before reaching a diagnosis
3
Every day without a genetic diagnosis is a missed opportunity
Recommended as a first‑line test
American College of Medical Genetics and Genomics recommends exome or genome as a first-tier test for developmental delay, intellectual disability, and congenital anomalies.
National Society of Genetic Counselors recommends exome or
genome sequencing for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society.
Exome finds answers that other tests can miss
Choosing exome sequencing can shorten the journey to a diagnosis, resulting in updated medical management and reduced healthcare expenses.
The diagnostic rate of exome testing is 2x
greater than chromosomal microarray.
23% of patients diagnosed via exome testing
would not have received a diagnosis with a
genetic panel.
Exome Sequencing Test Options
The Orla Health eXome® test, analyzes the protein-coding regions of approximately 20,000 genes to identify genetic
changes that may be the underlying cause of a patient’s symptoms or condition. Select trio, duo or proband.
Turnaround time: 5 weeks*
.
eXome® Plus consists of concurrent evaluation of the exome and mitochondrial genome using two separate assays. Separate result reports will be issued for the exome analysis and the mitochondrial genome analysis. eXome® Plus is best suited for individuals with clinical features suggesting a mitochondrial disorder. Select trio, duo or proband.
Turnaround time: 5 weeks*
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.
eXomeXpress®, the Orla Health eXome® test with rapid turnaround, is ideal for acutely or critically ill patients who need answers fast. Select trio, duo or proband.
Turnaround time: provisional results within 7 days, full written report within 2 weeks*