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 DMD gene.
WHAT TESTING IS INCLUDED IN THE CARRIER TESTING PROGRAM?
Decode Duchenne carrier testing includes testing for deletions, duplications and smaller point mutations through targeted testing via MLPA or DNA sequencing of the DMD gene based on the known familial mutation. If you have a patient with no known genetic change in the family, please contact a Decode Duchenne Genetic Counselor.
HOW LONG DOES IT TAKE THE TEST RESULTS TO COME BACK?
Results are typically available in 2 – 3 weeks after a sample is submitted.
WHAT QUALIFIES AS A BARRIER TO TESTING?
Your office is the expert about insurance coverage in your state and your patient’s unique situation. If concern about cost is a barrier to your patient getting genetic testing, Decode Duchenne can help.
Possible situations that could qualify as a barrier include, but are not limited to:
- Your patient’s insurance denied genetic testing or excludes genetic testing
- Your patient would still owe a deductible or co-pay they cannot afford, even though insurance will cover the test
- Your patient does not have insurance
- Your patient has a longstanding diagnosis but never had genetic testing or needs repeat testing, which insurance would not consider medically necessary
DOES MY PATIENT NEED AN INSURANCE DENIAL TO USE DECODE DUCHENNE?
No, we do not require proof of insurance denial.
MY PATIENT NEEDS RE-TESTING. CAN THEY USE DECODE DUCHENNE?
Absolutely, simply proceed as you would for any other patient.
WHAT IF MY PATIENT HAS PROBLEMS GETTING A BLOOD DRAW OR PAYING FOR SHIPPING COSTS?
Let us help! If obtaining a blood draw becomes a barrier, we recommend utilizing a saliva kit. Saliva kits can be sent directly to a patient’s home for sample collection. In this scenario, you would need to forward all the paperwork (completed requisition and consent form) to the patient so they can include the paperwork with the sample. All specimen shipping kits come with prepaid return shipping labels. Click here to request a kit directly from the PerkinElmer website. Please note: You will need to upload the completed Decode test requisition form in order to ship a saliva kit directly to a patient’s home.
WHAT SAMPLE SHOULD I SEND: BLOOD OR SALIVA?
Samples accepted include:
- Blood in EDTA (purple top)
- Infants (<2 years): 2-3 ml
- Children (>2 years): 3-5 ml
- Older children & Adults: 5-10ml
- Store at ambient temperature
- Saliva collected with a PerkinElmer Genomics saliva swab kit only, store at ambient temperature
Dried Blood Spot (DBS)
- Blood collected with a PerkinElmer Genomics DBS kit only, store at ambient temperature
WHERE DO I GET THE TEST REQUISITION?
For diagnostic testing through Decode Duchenne, you can find test requisitions through our designated laboratory, PerkinElmer Genomics. An application is no longer needed for diagnostic testing (unless you are located in New York State). You can also download the Decode Duchenne test requisition form.
For carrier testing through Decode Duchenne, a Decode genetic counselor will send you the test requisition once your patient’s application is received and approved. Requisitions are typically sent out the same business day. However, if you have a patient in clinic who needs testing, feel free to call for immediate approval or obtain a sample and hold while the application is in process.
DOES DECODE DUCHENNE PROVIDE FREE CARRIER TESTING?
YES! The Decode Duchenne program can also provide free carrier testing. Complete an application if you have a female patient who needs carrier testing.
WHAT IF MY PATIENT ISN’T 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 ask that you share information about the Registry with your Duchenne and Becker patients and families, and explain the benefits of joining the Registry.
We know that not all patients are able to register at the time of their testing, and many may not be ready to take this step. We have a Registry postcard that is easy to give families while they are in clinic and a helpful reminder once they are home. Please contact us if you would like Registry postcards for your clinic.
WHO DO I CALL IF I HAVE QUESTIONS?
Decode Duchenne is administered by Parent Project Muscular Dystrophy and The Duchenne Registry. Decode Duchenne is sponsored by Sarepta Therapeutics and PTC Therapeutics. Click here to review PPMD’s policy on corporate support.