Gene panel testing can be one of the most direct, accurate, and cost-effective ways to identify the underlying cause of your child’s skeletal dysplasia. Certain gene panel tests may be available at no cost to you.
A skeletal dysplasia gene panel is a simple test that looks for changes in genes associated with skeletal dysplasia. It may help pinpoint the underlying genetic cause of your child’s condition.
This test may give doctors the information they need to target and manage your child’s specific genetic condition. And it may give you the answers you need to understand your child’s specific type of skeletal dysplasia.
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Gene panel testing may help you find a more specific diagnosis. The earlier your child has a confirmed diagnosis, the sooner you and your family can confidently move forward.
There are several ways to test for genetic conditions. Your doctor will request a sample of your child’s saliva, blood, or cells from a cheek swab. This may happen at the doctor’s office, or you may be able to do this at home.
Once the sample is collected, it’s sent to a lab for analysis. Usually, results will be ready within a few weeks. Once they are ready, you may meet with your doctor or a genetic counselor who will help you and your family understand the results and what’s next.
Once you receive your child’s test results, you may be able to find more specific care for your child’s condition. The results from gene panel testing can empower you and your doctor to choose the right management plan for your child and plan for your family’s future.
