Clinical services provided by Genome Medical
Clinical services provided by Genome Medical

Now you can
receive a
no-cost1 genetic
test for your child
sent directly to your
home.

Get the answers you deserve.

If your child has been diagnosed with cerebral palsy (CP), or has symptoms of CP without a clear cause, there may be a genetic reason. In fact, up to 1/3 of CP cases may have a genetic cause—and some of those conditions may have life-changing treatments. Find out with PTC Pinpoint DirectTM, a no-cost, sponsored genetic test for qualified patients. It’s a simple test you can start right from your home.

Now you can receive a no-cost1 genetic test for your child sent directly to your home.

Get the answers you deserve.

If your child has been diagnosed with cerebral palsy (CP), or has symptoms of CP without a clear cause, there may be a genetic reason. In fact, up to 1/3 of CP cases may have a genetic cause—and some of those conditions may have life-changing treatments. Find out with PTC Pinpoint DirectTM, a no-cost, sponsored genetic test for qualified patients. It’s a simple test you can start right from your home.

Get answers sooner.

Genetic testing for your child may help:

  • Learn if your child’s CP symptoms have a genetic cause and understand the prognosis.
  • Discover the cause of symptoms when the diagnosis doesn’t explain them.
  • Determine the right plan for your child’s care including new and emerging options.
  • Eliminate unnecessary treatments or medications that can cause complications.

Answer just two questions
to find out if your child may
qualify for no-cost testing.

See if you qualify

Does your child have a diagnosis of cerebral palsy (CP) and/or symptoms of CP? 

CP symptoms include:

  • Weak muscle tone (“floppiness”)
  • Rigid or stiff muscles or joints
  • Delays in reaching motor skills milestones (such as holding her/his head up, sitting up, crawling, standing)
  • Involuntary movements (such as stiff, jerky movements; slow, twisting movements; or shaking)
  • Abnormal posture (such as crouched or bent posture; or using one side of the body more than the other)
  • Trouble walking

YesNo

Has your doctor told you that your child’s CP symptoms have been caused by a brain injury or health complication (before, during, or after birth)? 

Choose YES if your doctor told you that your child’s CP symptoms were likely caused by one or more of these health complications:

  • Pregnancy complications (such as premature birth, problems with the placenta, the mother having a serious infection)
  • Complications during birth due to decreased oxygen to the brain
  • Injury or illness in the child such as stroke, head trauma, almost drowning, infection of the brain (encephalitis), infection of the tissues around the brain (meningitis)

YesNo

Explore self-pay and insurance options.
While this test may still be appropriate for your child, the no-cost, sponsored testing option is only available for those with a confirmed or suspected diagnosis of CP without a known cause, such as brain injury. Click here to explore self-pay and insurance pay options.

Thank you!
You qualify for a consultation with a genetic counselor to review your child’s health history, answer any questions you may have, and confirm eligibility for this genetic test at no-cost to you. Click here to schedule your appointment with a genetic counselor.

How it works.

Pre-test consultation

Talk with an expert by phone or video before the test is ordered. We’ll review your child’s personal and family health history, answer any questions you may have, and confirm that your child qualifies for no-cost, sponsored testing.

Simple to order

If your child qualifies for PTC Pinpoint DirectTM sponsored testing, or if you choose a self-pay or insurance option, your order will be placed by one of our health care professionals.

Direct to your home

You will receive a collection kit directly to your home. Just follow the step-by-step instructions to swab the inside of your child’s cheek to collect the DNA sample and send it back in the pre-paid envelope provided.

Results consultation

During this phone or video session with a genetic counselor or medical geneticist, you can review and discuss the results of your child’s test and the implications. You will receive a written summary and guidance on any actionable insights, including how your child’s doctor can integrate the results into your child’s medical care.

Ongoing care

Get personalized insights, a clinical action plan to help you work with your doctor, and recommendations for next steps.

Answer just two questions
to find out if your child may
qualify for no-cost testing.

See if you qualify

From trusted experts.

No-cost1 testing

PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders.

Expert genetic counseling

Provided by top genetic experts at Genome Medical, dedicated to helping accelerate the integration of genetics into everyday health care.

Clinical-grade testing

Invitae’s industry-leading labs are equipped with best-in-class technology, staffed by some of the world’s top genetics experts, and have delivered over a million results — and counting.

Frequently Asked Questions

Why is PTC Therapeutics sponsoring no-cost testing for qualified patients?

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.

Why are three companies involved?

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.

How does this test work with my child’s doctor?

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.

Will I be charged for this test and the genetic counseling?

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.

What is a genetic counselor?

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.

Why should I consult with one of the genetic counselors and what are their qualifications?

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.

What is genetic testing?

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.

How long will it take to schedule an appointment with a genetic expert?

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

What should I expect during the pre-test consultation?

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.

How should I prepare for the consultation?

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.

How long after I give my sample will my results be available?

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

How do I receive my results report?

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.

What information is included in my summary results report?

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.

What happens if results come back negative?

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.

How should my child’s physician be involved?

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.

More questions? We’re here for you.

Chat

Connect live with Genome Medical care coordinator.

Call

Call (877) 688-0992 at a time that’s convenient for you.

Email

Submit your question by email.
Get a reply within 1-2 business days.

1. There is no cost to eligible participants for the PTC Therapeutics sponsored testing.

PTC Pinpoint Direct is a trademark of PTC Therapeutics, Inc.
PTC Therapeutics has the right to amend or terminate this program at any time.