Happy Thanksgiving! Please be advised that in-transit patient samples will be held by the carrier on Nov. 28 and received by our lab on Nov 29. Kit orders placed Nov. 28-Dec. 1 will be sent on Dec 2. Our genetic counseling services, client services, and billing services will be unavailable Nov. 28-29. Leave us a message at 888-729-1206 or support@genedx.com and we will respond when we return on Dec. 2.
The first step? Connecting with a genetic counselor.
Too many children experience medical symptoms without a clear answer as to why. Meanwhile, genetic tests exist that may provide the answers these families desperately need. To bridge that gap, GeneDx partnered with Genome Medical to make our exome tests more available and shorten the time it takes many families to get a diagnosis.
“I would never wish those seven years I spent searching for a diagnosis on anyone. The sense of relief I finally got from finally getting a diagnosis was overwhelming. We found hope and a path forward.”
— Ashley who finally found the reason for her son Ben’s symptoms after years of seizures, hospitalizations, blood tests, MRIs, CAT scans, a spinal tap, physical therapy, and too many doctors appointments. Read their story.
A GeneDx exome test may be right for your child (and recommended by medical guidelines) if they are experiencing any of these symptoms:
This list isn’t exhaustive. Other unexplained symptoms you may want to discuss with a genetic counselor can be found in the How it works section below.
Created for families who have trouble finding a local healthcare provider to order comprehensive genetic testing, this partnership connects families with telehealth genetics experts who can order exome testing. That one test can make the difference between getting a diagnosis in a few weeks instead of a few years.
The first step is to register with Genome Medical, a leading genetic counseling services company. You can learn more about Genome Medical and schedule an appointment with one of their genetic counselors here. Appointments are typically available within one week.
Connect with a genetic counselor via telehealth. They will work with you to determine if an exome test is right for your child.
Genome Medical’s genetic counselors are healthcare professionals trained in genetics and counseling and skilled at explaining genetic testing in a way that’s easy to understand. In order to determine if an exome test is needed, they will discuss your child’s symptoms with you.
As mentioned above, a GeneDx exome test may be right for your child (and recommended by medical guidelines) if they are experiencing any of these symptoms:
Other unexplained symptoms you may want to discuss with a genetic counselor include:
Your genetic counselor will determine if an exome test is recommended for your child’s unique situation.
A test kit will be sent to your home. All you have to do is collect a sample using a cheek swab and mail it to the GeneDx lab.
Genome Medical returns the genetic test results, including a written summary and guidance on next steps.You can also meet with a genetic counselor again if desired. We recommend you share your results and guidance with your doctor and any other medical providers.
— Ashley, Ben’s mother
Schedule an appointment to start working with a certified genetic counselor and receive expert consultation on testing, all from the comfort of your own home.
Get started nowChoosing exome sequencing can shorten the journey to a diagnosis, helping your healthcare provider diagnose a specific disorder or develop a more effective care plan, faster.
What’s more, the American College of Medical Genetics and Genomics recommends exome or genome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.2
And the 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.1
Other symptoms to discuss with a genetics expert
The following can also be caused by a genetic condition. You may want to discuss these with your genetic counselor:
Note: In some cases, exome testing will not be the right clinical approach. Your Genome Medical genetic counselor will discuss the best options for you.
Yes, at this time, this program is limited to individuals residing in the United States.
The program includes two separate components, with two separate billing policies. Genetic counseling and test ordering is performed by Genome Medical, while the laboratory testing and analysis is performed by GeneDx.
Alternatively, Genome Medical offers self-pay pricing: $250 for the initial pre-test counseling, order placement, and results summary, and an additional $250 for post-test counseling (if desired).
Additionally, patients with epilepsy may qualify for GeneDx’s Epilepsy Partnership Program. Through this program, if a family’s health insurance company denies their claim or if they are uninsured, our pharma partners will cover the cost of GeneDx testing. Visit GeneDx.com/partnership-program for more.
In addition, Genome Medical and GeneDx each offer financial assistance options:
A genetic counselor is a healthcare professional trained in medical genetics and counseling, and skilled at explaining genetic testing in a way that’s easy to understand. During a genetic counseling session with Genome Medical, the genetic counselor may:
Step 1: Collect your sample(s)
If an exome test is right for your child, you will receive a collection kit in the mail. Inside you will find everything you need to collect the DNA sample using an oral cheek swab (also known as a buccal swab) and send it back to the GeneDx lab for analysis.
If your Genome Medical genetic counselor recommends duo or trio testing (comparing the DNA of two or three biologically related family members), your family members will also receive kit boxes. Please be sure that all family members send their kits back to GeneDx quickly, as testing cannot begin until all samples arrive.
Step 2: GeneDx analyzes your child’s DNA
GeneDx receives your child’s sample, the DNA is analyzed with the most up to-date technology to identify if there are any genetic changes that might explain your child’s symptoms. Next, your results are interpreted by our team of genetics experts, who write your personalized report.
Step 3: You receive your results
The test report is delivered to Genome Medical; they will share the results with you in your Genome Medical Portal. You can schedule a follow up appointment to discuss your results with your genetic counselor. Additionally, you can share the results with your other healthcare providers.
Genetic testing can deliver three types of results:
The exact information found in an exome report will vary, although results will typically contain details like:
When someone receives exome or genome testing, genetic changes may also be identified that are unrelated to the reason for testing. These are known as “secondary findings.”
The American College of Medical Genetics and Genomics (ACMG) has created a list of specific “secondary findings” genes known to be associated with health conditions for which medical screening and/or treatments are available. Most conditions on this list can increase the chances of developing certain cancers or heart conditions, or change the way your body breaks down, stores, and uses different substances (called metabolic conditions). Certain conditions, such as Alzheimer’s or Huntington disease, are not included.
Exome or genome testing identifies secondary findings in approximately 2% to 3% of people.3-5 This means that testing does not identify a secondary finding in 97% to 98% of people.
Secondary findings are optional to receive. Before testing, talk to your Genome Medical genetic counselor about whether you would like to receive results of secondary findings.
When choosing to pursue genetic testing for your child, you must provide informed consent. This means that you have been educated about the benefits, risks, and limitations of genetic testing and agree to move forward. GeneDx’s consent also covers the options for secondary findings and being contacted in the future for research purposes.
Click here to view GeneDx’s informed consent form, as well as additional information about options for future contact, use of de-identified data, and specimen retention.
References: 1. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646. 2. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 3. Katz AE et al. Am J Hum Genet. 2020 Jul 2;107(1):3-14. 4. Schwartz MLB, et al. Am J Hum Genet. 2018 Sep 6;103(3):328-337. 5. Internal data.
