What is genetic testing?
Genetic testing is a medical tool used to help explain unexplained symptoms, diagnose genetic conditions, and guide care decisions.
Genetic testing looks at a person’s DNA to help explain why certain health conditions occur. For many families facing unexplained symptoms, delayed diagnoses, or complex medical journeys, genetic testing can provide clarity, direction, and a path forward.
At GeneDx, we focus exclusively on clinical genetic testing for inherited health conditions, working alongside healthcare providers to help families make confident, informed decisions about care.
What medical genetic testing is (and isn’t)
GeneDx does not offer ancestry, wellness, or recreational DNA testing. Our testing is designed to support diagnosis, care decisions, and long-term health management.
Medical genetic testing
Consumer DNA tests
When answers aren’t clear, genetics can help
Many conditions, especially rare and childhood-onset conditions, have a genetic cause. In fact, the majority of rare diseases are genetic in nature.
Genetic testing may be helpful when:
- Symptoms don’t fit a clear diagnosis
- Standard tests haven’t explained what’s going on
- A condition affects development, learning, or growth
- Seizures, developmental delays, or birth differences are present
Understanding the genetic cause of a condition can help families and providers:
- Identify or confirm a diagnosis
- Guide treatment and care decisions
- Understand what to expect in the future
- Connect with condition-specific resources and support
Common reasons families explore genetic testing
Genetic testing is often considered when a child’s symptoms don’t yet have a clear explanation or when a diagnosis doesn’t fully explain what’s happening.
Families may begin exploring genetic testing when:
Your healthcare provider can help determine whether genetic testing may be appropriate based on your child’s symptoms and history. If you’d like guidance along the way, visit our Patient Support page to learn about genetic counseling, telehealth options, and other family resources.
A guided process, from testing to answers
Genetic testing typically involves a few key steps, including working with your doctor, providing a sample, and reviewing results together.
Types of medical genetic tests
Genetic testing includes several different approaches. The right test depends on a person’s symptoms, medical
history, and what a healthcare provider is trying to understand.
Single-Gene tests
Look at one specific gene when a particular condition is strongly suspected.
Targeted or panel tests
Examine a group of genes associated with certain symptoms or conditions.
Chromosomal microarray (CMA)
Identifies larger missing or extra pieces of chromosomes.
Exome or genome testing
Analyzes over 20,000 genes genes at once, including most genes known to be associated with disease.
When genetic testing may be considered
Genetic testing is often introduced when symptoms don’t yet have a clear explanation or when a diagnosis leaves important questions unanswered.
You may hear it discussed if:
- Symptoms are unexplained or complex
- Developmental milestones are delayed
- Seizures or neurological symptoms are present
- A diagnosis doesn’t fully explain the condition
- There are concerns about inherited causes
A healthcare provider can help determine whether genetic testing may be appropriatebased on medical history, symptoms, and family background. If you’re unsure how to start that conversation, visit our Talk to Your Doctor page for guidance.
What to expect from genetic testing results
Genetic testing can:
- Identify or confirm a genetic cause for certain symptoms
- Help guide treatment or care decisions in some cases
- Provide information about inheritance and family risk
However, genetic testing does not always provide a clear or immediate diagnosis. Sometimes results are inconclusive and identify a genetic change that is not yet fully understood. As scientific knowledge advances, inconclusive results may turn into a definitive answer in the future.
Your healthcare provider or a genetic counselor can help explain what your results mean and what next steps, if any, may be appropriate.
Additional resources
Learn more about your options
Explore our Genetic Testing Guide to compare different types of medical genetic tests and understand when each may be used.
Prepare for a conversation with your provider
Visit our Talk to Your Doctor page for guidance on how to discuss genetic testing with your child’s healthcare team.
Explore advanced testing options
Learn more about exome and genome testing for complex or unexplained conditions.
Find support along the way
Visit our Patient Support page for information about genetic counseling, insurance coverage, financial assistance, and advocacy resources.
For health care providers
If you are a clinician seeking detailed clinical information about exome and genome testing, explore our provider-focused exome and genome testing overview for ordering guidance, test specifications, and clinical resources.
Explore exome and genome testing
Exome and genome testing analyze large portions of DNA and may be used when symptoms are complex or remain unexplained. Learn how these advanced testing options work and when they may be considered.