PTC Therapeutics is dedicated to extending life’s moments for patients with rare diseases and their loved ones. The company works closely with patients, caregivers and advocacy groups to offer support, connection and resources that address the needs of patients with rare diseases. Helping patients with rare conditions get genetic testing that can speed diagnosis and open up new treatment possibilities is an essential part of that support.

To eliminate the barriers to genetic testing for rare diseases like CP with a sponsored test that you can order yourself, PTC Therapeutics has teamed with Genome Medical for expert genetic counseling and administration, and Invitae for industry-leading testing. It’s a best-in-class collaboration that brings top experts in genetic testing together for you. Just as important, we make it easy and seamless, so it’s all available through a single, convenient source.

Your child’s doctor shares your interest in working to improve your child’s health, and testing can be an important tool that can help you and your doctor find a diagnosis and determine the right treatment plan. Following the test, you’ll get a clinical action plan to share with the doctor so you can work together to ensure the appropriate services and treatments are in place.

If your child qualifies, there’s no cost for the genetic test and the genetic counseling thanks to PTC Therapeutics’ sponsorship. If you don’t qualify, you can order the test through a self-pay option for $129 which includes a pre- and post-test consultation, or your cost may be as low at $50 with qualifying insurance.

A genetic counselor is a genetic expert who can help you understand how genetics impacts your child’s health, whether genetic testing is right for your child, and what tests may be the most appropriate. A genetic counselor is specially trained to understand the complexities of genetic tests and how to interpret an individual’s unique results.

Genome Medical’s national network of genetic experts includes both medical geneticists and genetic counselors. Your consultation will most likely be with a genetic counselor who is a medical provider specially trained to understand the complexities of genetic tests and how to interpret your child’s unique results. In certain cases, you may also work with a medical geneticist, a physician trained in general medicine, genetic diagnosis and the treatment of patients with genetic disorders.

Genetic counselors start by learning what important health questions you have, assessing the risk for disorders of interest, and then reviewing how genetic testing may help answer them. Their recommendations are tailored to address the issues that are most important to you. If you have questions about your child’s results, genetic counselors are there to explain what it means and work with you to understand best next steps and develop a care plan.

To learn about DNA, it helps to start with our genes. We inherit our genes from our parents. Genes contain instructions for all of our traits – such as hair color, eye color, aspects of our health – many things that make us who we are. Although we can’t see them, genes are in the millions of cells throughout our bodies. Genes are found in structures called chromosomes, which are also in our cells.

Genes are made up of chemical building blocks called DNA, abbreviated as “A,” “C,” “T” and “G,” which are spelled in a very specific order to make up a gene. Since genes have instructions for our health, small changes in the way our DNA is spelled in a gene – like a typo – can impact our health. These small changes are called DNA variants.

One type of genetic testing is called DNA sequencing, which studies the DNA within our genes to look for DNA variants. Some DNA variants cause minor traits in us, like the color of our eyes. Other DNA variants can impact our health, such as DNA variants that cause us to have an increased risk for cancer.

Genetic testing looks for DNA variants to figure out a genetic cause or risk for health problems. Knowing if your child’s health problems have a genetic cause and the health risks can help you and your doctors better understand the prognosis, ensure the appropriate treatments are in place, and learn about family planning implications.

You can schedule an appointment at your convenience, generally within 1-2 business days.

During the pre-test consultation, you’ll meet with a Genome Medical board-certified genetic counselor via video or phone to discuss your child’s condition. The genetic counselor will answer any questions you may have, collect the child’s personal family health history, and confirm that your child qualifies for no-cost, sponsored testing.

Prior to your scheduled consultation, it would be helpful to think about your reasons for pursuing testing, and if you have any concerns regarding your child’s family history that you were hoping to address. Please try to find out as much information as you can about your child’s family health history before the appointment and share that information with the genetic counselor.

In most cases, test results will be available in approximately 2-3 weeks.

Genome Medical will contact you via email or phone once your results are ready. At that time, we encourage you to schedule a post-test consultation to review the test results to better understand what the results mean for you and your family.

A clinical action plan is provided to you once results are complete. The plan is a written summary of the results and guidance on any actionable insights, including how you and your family’s doctor can integrate results into medical care.

If results are negative, we will send you a letter, a clinical action plan, detailing your results. A follow-up consultation is available if you have questions regarding any of the test results.

We recommend sharing your clinical action plan with your child’s doctor so that the doctor can manage any recommendations regarding the results. Your doctor can also contact Genome Medical if there are any questions regarding the recommendations or results.