Patient FAQs

WHAT IS DIAGNOSTIC TESTING?

Diagnostic testing for Duchenne is testing done on someone with symptoms in order to confirm a diagnosis of Duchenne or Becker muscular dystrophy. This is done through genetic testing, serum creatine kinase levels, or occasionally RNA sequencing.

WHAT IS CARRIER TESTING?

Carrier testing for Duchenne is DNA testing to see if someone who usually has NO symptoms of Duchenne has genetic changes that COULD lead to symptoms in themselves or their offspring.

WHAT TESTING IS INCLUDED IN THE DIAGNOSTIC TESTING PROGRAM?

Decode Duchenne diagnostic testing includes testing for deletions, duplications, and smaller point mutations through next generation sequencing (NGS) of the Duchenne gene. Creatine kinase levels can also be measured to determine if there has been muscular damage. Additionally, RNA sequencing can be done on muscle biopsy samples to find genetic variants not able to be picked up on standard genetic testing.

WHAT TESTING IS INCLUDED IN THE CARRIER TESTING PROGRAM?

Decode Duchenne carrier testing typically includes testing for deletions, duplications and smaller point mutations through targeted testing of the Duchenne gene based on the known genetic change in the family.

I AM INTERESTED IN CARRIER TESTING, WHERE DO I START?

Our carrier testing program is designed for individuals who have a family history of Duchenne or Becker. The best place to start is by asking your relatives if anyone else in your family has had genetic testing. The laboratory performing your carrier testing needs to know the genetic change (mutation) in your affected relative. Reach out to your family members and ask if they have a copy of the affected relative’s DNA testing report and if they could share a copy with you. If you have a family history of Duchenne or Becker, but do not know or are unable to find out about any DNA testing in the past, we can still help in most cases! Please reach out to our Decode Duchenne Genetic Counselor.

WHERE DO I GET PAPERWORK FOR TESTING?

You must have a local healthcare provider submit an application on your behalf for carrier testing through Decode Duchenne. This could be any doctor, nurse, genetic counselor or other healthcare provider who is legally able to order genetic testing. We will work with this healthcare provider to coordinate testing. If your healthcare provider is not familiar with Duchenne or has any questions about the testing, please have them reach out to our Decode Duchenne Genetic Counselor. You can also download and print this information sheet on Decode Duchenne and share it with your provider. Click here for the Spanish version.

CAN I HAVE TESTING IN MY HOME?

You can obtain your sample at home with a saliva sample collection kit. However, you would need to obtain the paperwork (completed test requisition and consent form) from your provider and include the paperwork with your saliva sample before shipping to the laboratory. Our saliva sample kits provide free return shipping to our designated laboratory, PerkinElmer Genomics.

HOW LONG DOES IT TAKE THE TEST RESULTS TO COME BACK?

Results are typically available in 2 weeks after the sample and all necessary paperwork is submitted. The results will be sent to your local healthcare provider who orders the testing.

DO WE NEED AN INSURANCE DENIAL TO USE DECODE DUCHENNE?

No, we do not require proof of insurance denial.

WHAT IF MY FAMILY IS NOT REGISTERED IN THE DUCHENNE REGISTRY?

While we strongly encourage all patients and families with Duchenne or Becker to join The Duchenne Registry, registering is completely voluntary. We encourage you to learn more about the Registry by visiting its website and contacting us if you have any questions. Joining The Duchenne Registry is an easy way to help advance research and treatments for Duchenne, without ever leaving your home! It is also a great way to stay informed about research studies and clinical trials that you or your loved one may qualify for, if interested. Join The Duchenne Registry and Join the Fight to End Duchenne!

WHO DO I CALL IF I HAVE QUESTIONS?

Contact a Decode Duchenne Genetic Counselor >

 

 

Decode Duchenne is administered by Parent Project Muscular Dystrophy and The Duchenne Registry. Decode Duchenne is presented by Sarepta Therapeutics and supported by PTC Therapeutics, Vertex Pharmaceuticals, and NS Pharma. Click here to review PPMD’s policy on corporate support.