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Testing Guide

A comprehensive guide for genetic testing

The right test, chosen with care, can change everything

The moment you start exploring genetic testing, it’s easy to feel like you’ve entered a never-ending, exhausting maze. There are complex clinical terms, complicated screening guidelines, and conflicting information at every turn. It can make getting a test feel like an impossible task.

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Not all tests are created equal. And not every test is right for every family.

Our genetic testing guide helps you compare different types of genetic tests so you can make the most informed choice. Your healthcare provider will recommend a test based on what they feel is best, and this guide can help you understand the options and ask questions with confidence.

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Test Type
Description
Use cases
Takeaway
Single gene test
Looks at one specific gene for variants (mutations). Looks for a known, gene variant (mutation) that has already been identified in a family member.
Used when a specific genetic condition is strongly suspected.
Best used when there’s a strong clinical suspicion based on symptoms or family history
Targeted variant testing
Looks for a known, gene variant (mutation) that has already been identified in a family member.
Typically used to test a child for a variant identified in a parent or another sibling.
This testing is most valuable when a known familial variant (mutation) exists.
Multi-gene or panel test
Tests several to hundreds of genes at once. Tests the genes that are known to be related to a certain condition or set of symptoms.
Can be used for conditions like epilepsy, developmental delay, autism, neuromuscular symptoms, inherited cancers, etc.
The genes included on panels can vary by lab — some may cover just several genes, while others may cover a few hundred. Not all genes are tested.
Chromosomal Microarray (CMA)
Looks for missing or extra pieces of chromosomes. It does not read the DNA sequence itself for variants (mutations) but instead checks if parts of the DNA are duplicated or deleted.
Used for developmental delay, intellectual disability, autism, or multiple birth defects.
If your child gets a negative result from CMA, it doesn’t necessarily mean there isn’t a genetic cause.
Exome
Looks for genetic variants (mutations) in the portion of a person’s DNA that tells the body how to make proteins — that’s more than 20,000 genes. The majority of genetic conditions are caused by changes that can be identified with exome testing.
Most highly recommended test for: Developmental delays, intellectual disabilities, congenital anomalies, Epilepsy, autism spectrum disorder, cerebral palsy, or muscle/movement differences.
The AAP recommends starting with Exome testing for many pediatric cases due to its comprehensiveness. Your doctor may also order testing on biological family members, which can help increase chances of finding a diagnosis.
Genome
Looks for genetic changes across all of a person’s DNA. Including everything that exome testing looks at, as well as the regions of DNA that don’t code for proteins.
Most highly recommended test for: Developmental delays, intellectual disabilities, congenital anomalies, Epilepsy, autism spectrum disorder, cerebral palsy, or muscle/movement differences.
The AAP recommends starting with Genome testing for many pediatric cases due to its comprehensiveness. Your doctor may also order testing on biological family members, which can help increase chances of finding a diagnosis.
Ancestry traits
These tests provide information about ancestry or non-medical traits (e.g., hair type, lactose intolerance). They are not used to diagnose any condition
Used for recreational purposes, like understanding ethnicity or inherited physical traits. These tests are not meant for medical decision making.
This is a different type of genetic test that is not recommended for those trying to understand medical symptoms or diagnose a condition.
Description
Use cases
Takeaway
Single gene test
Looks at one specific gene for variants (mutations). Looks for a known, gene variant (mutation) that has already been identified in a family member.
Targeted variant testing
Looks for a known, gene variant (mutation) that has already been identified in a family member.
Multi-gene or panel test
Tests several to hundreds of genes at once. Tests the genes that are known to be related to a certain condition or set of symptoms.
Chromosomal Microarray (CMA)
Looks for missing or extra pieces of chromosomes. It does not read the DNA sequence itself for variants (mutations) but instead checks if parts of the DNA are duplicated or deleted.
Exome
Looks for genetic variants (mutations) in the portion of a person’s DNA that tells the body how to make proteins — that’s more than 20,000 genes. The majority of genetic conditions are caused by changes that can be identified with exome testing.
Genome
Looks for genetic changes across all of a person’s DNA. Including everything that exome testing looks at, as well as the regions of DNA that don’t code for proteins.
Ancestry traits
These tests provide information about ancestry or non-medical traits (e.g., hair type, lactose intolerance). They are not used to diagnose any condition
Single gene test
Used when a specific genetic condition is strongly suspected.
Targeted variant testing
Typically used to test a child for a variant identified in a parent or another sibling.
Multi-gene or panel test
Can be used for conditions like epilepsy, developmental delay, autism, neuromuscular symptoms, inherited cancers, etc.
Chromosomal Microarray (CMA)
Used for developmental delay, intellectual disability, autism, or multiple birth defects.
Exome
Most highly recommended test for: Developmental delays, intellectual disabilities, congenital anomalies, Epilepsy, autism spectrum disorder, cerebral palsy, or muscle/movement differences.
Genome
Most highly recommended test for: Developmental delays, intellectual disabilities, congenital anomalies, Epilepsy, autism spectrum disorder, cerebral palsy, or muscle/movement differences.
Ancestry traits
Used for recreational purposes, like understanding ethnicity or inherited physical traits. These tests are not meant for medical decision making.
Single gene test
Best used when there’s a strong clinical suspicion based on symptoms or family history
Targeted variant testing
This testing is most valuable when a known familial variant (mutation) exists.
Multi-gene or panel test
The genes included on panels can vary by lab — some may cover just several genes, while others may cover a few hundred. Not all genes are tested.
Chromosomal Microarray (CMA)
If your child gets a negative result from CMA, it doesn’t necessarily mean there isn’t a genetic cause.
Exome
The AAP recommends starting with Exome testing for many pediatric cases due to its comprehensiveness. Your doctor may also order testing on biological family members, which can help increase chances of finding a diagnosis.
Genome
The AAP recommends starting with Genome testing for many pediatric cases due to its comprehensiveness. Your doctor may also order testing on biological family members, which can help increase chances of finding a diagnosis.
Ancestry traits
This is a different type of genetic test that is not recommended for those trying to understand medical symptoms or diagnose a condition.

This chart is only a reference. Be sure to check with your healthcare provider or a genetics specialist for further guidance.

“Trust yourself. All the hoops you have to jump through are hugely time-consuming. But exome testing can make all the difference—and you shouldn’t have to wait years for it. So don’t stop asking.”

May, mother and caregiver

Genetic testing is more accessible than ever before

Our tools and services help make it easier for families to find answers. You can talk to your provider about getting a genetic test or connect with our telehealth partner from the comfort of your own home.

How testing works

Recommendations from these organizations can help guide you:

  • The American Academy of Pediatrics (AAP) now recommends exome and genome testing for children with global developmental delay (GDD) and intellectual disability (ID).1
  • The American College of Medical Genetics and Genomics recommends exome or genome testing as a first-tier test for developmental delay, ID, and congenital anomalies (birth defects).2
  • The National Society of Genetic Counselors recommends exome or genome testing for all individuals with unexplained epilepsy–a guideline endorsed by the American Epilepsy Society.3
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Comprehensive genetic testing is becoming more widely covered

Is this covered by insurance?

GeneDx works with many different insurance plans. See if your plan is on our list of in-network providers.

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Do you offer financial assistance?

Yes, GeneDx works with different partners to make genetic testing as accessible as possible. Explore your options here.

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Do you have programs to support children with epilepsy?

Yes, we work with the Epilepsy Partnership Program. See if your family qualifies for our Epilepsy Partnership Program.

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Science that serves people

We’re scientists, but we’re also parents, siblings, and caregivers who understand how powerful an answer can be.