Newly Diagnosed · Understand the Diagnosis
Plain-language guidance to the things that matter most.
A genetic report can look complicated. You don't need to understand every technical detail right away. Focus on these key pieces first. We'll show you where to find them on a real sample report and what they mean.
Click any item below to see exactly where it appears on a real sample report and what it means.
Find the laboratory's main conclusion, often near the top of the first page.
Find the gene symbol connected to the result. For Duchenne, it will usually say DMD.
Find the complete description of the genetic change and copy it exactly as written.
Find the exon numbers inside the deletion or duplication description.
Find the laboratory's assessment, such as pathogenic or likely pathogenic.
Find terms such as hemizygous that describe how the result was identified.
Find the paragraph explaining what the result may mean in the clinical context.
These key pieces help you and your care team:
You don't have to learn it all at once. We're here to guide you.
Every laboratory formats reports a little differently. The words and layout may change, but the same key information is always there.
Some use tables.
Others write it in paragraphs.
Some name columns differently.
The meaning is the same.
The order can vary.
The key details are always included.
When in doubt, ask your care team to point out each of these for you.
Genetic reports can feel overwhelming at first. Focus on the key pieces, take your time, and write down questions as they come up.
Ask for a copy of the full report and keep it somewhere safe. You will need it more than once.
You are learning something new, and that takes time. It's okay to ask the same questions again. Your care team is there to help.
You are allowed to ask, "Can you explain that again?"
— From parents who have walked this road before you.
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