Improve diagnostic clarity with trio testing
Trio exome testing provides additional context for variant interpretation, increasing diagnostic yield by 7–15%1-4 compared to testing that does not include parental samples. It can also reduce inconclusive results by over 30% compared to gene panels.5
This can mean fewer ambiguous findings and a more efficient path to diagnosis, without additional rounds of testing.
The American College of Medical Genetics support trio-based sequencing when possible6.
Streamline workflow and reduce delays
with trio testing
followed by sequential parental testing.
Securing parental samples upfront can avoid delays and additional staff effort required to recontact families, place new orders, and interpret results after proband-only testing.
Grouping testing into a single claim, under the child’s coverage or a single deductible, can simplify billing, avoiding separate charges across multiple individuals.
Streamline workflow and reduce delays with trio testing
Trio testing can also offer workflow and insurance coverage benefits compared to proband only followed by sequential parental testing.
Securing parental samples upfront can avoid delays and additional staff effort required to recontact families, place new orders, and interpret results after proband-only testing.
Grouping testing into a single claim, under the child’s coverage or a single deductible, can simplify billing or reduce out of pocket costs, avoiding separate charges across multiple individuals.
Trio testing available for exome and genome
Exome sequencing
Often the first, most effective step when a genetic cause is suspected. That’s because most known disease-causing variants are found within the exome.12
Genome sequencing
The most complete view of the genome, providing deeper insights beyond the exome when a broader search is needed.
Flexible genetic testing options: trio, duo, or proband
While trio testing offers the most comprehensive insights, both parents may not always be available.
In those cases, duo (one parent) or proband-only testing are available options to support accurate and timely results.
How to order
Choose a test
Use the test catalog to search for a test. Each listing includes recommended use cases, methodology, and sample requirements—helping you select the right test for each patient.
Submit a sample
Request a sample collection kit, collect the sample, and ship it to our lab using the provided materials. Detailed instructions are included with every kit.
Receive results
Results are delivered securely through our online ordering portal, typically within 2–4 weeks.7 Each report includes clear findings, interpretation, and clinical guidance to support next steps in care.
Helpful resources
How trio testing changed Lola's diagnosis
Finding
Lola's infantile seizures remained unexplained until trio exome sequencing confirmed a disease-causing CDKL5 variant, enabling a diagnosis that informed treatment and ongoing care.
How trio testing changed Harper's diagnosis
Finding
Harper's developmental delays had no clear cause until trio exome sequencing confirmed a likely pathogenic SOS1 variant, leading to a diagnosis of Noonan syndrome and earlier syndrome-specific care.
Ready to bring genetic testing into your practice?
We’re here to support every step.
Whether you’re a healthcare provider, patient, family member, or biopharma partner, GeneDx is here to support your next step.