For Families
Understanding Your Child's Genetic Report
Plain-language guide to the four things that matter most.
Your child's genetic report may look complicated, but you only need to focus on a few key pieces of information at first. We'll show you exactly what to look for and what it means.
helps you plan
for tomorrow.
The Four Things You Need to Find
Click each item to see it highlighted in the sample report below and learn what it means.
Sample Genetic Report
This is a sample report. Your child's report will look similar but not identical.
DOB: 01/01/2018
Report Date: 05/01/2024
Accession: 24-123456
This test was performed in a certified laboratory.
Gene
What this means
This tells you which gene is affected. For Duchenne, it will almost always be the DMD gene. This gene provides instructions for making dystrophin, a protein that helps protect muscles.
In this report: DMD
What each part means
1Gene
This tells you which gene is affected. For Duchenne, it will almost always be the DMD gene. This gene provides instructions for making dystrophin, a protein that helps protect muscles.
2Mutation Type
This explains what kind of genetic change was found. Common types include deletions, duplications, nonsense mutations, and smaller changes.
3Exon Number(s)
Exons are sections of the gene. These numbers help explain which part of the DMD gene is affected and may be important for treatment and trial discussions.
4Classification
This is the lab's interpretation of whether the genetic change causes disease. Common terms include pathogenic, likely pathogenic, and variant of uncertain significance.
What this may mean for treatment
The specific mutation in your child's DMD gene can affect which approved treatments may be an option, which clinical trials may be relevant, and how your care team discusses future possibilities.
- ✓ Which approved treatments may be an option
- ✓ Which clinical trials your child may be eligible for
- ✓ How the condition may progress
You're Ready for the Next Step
After reading this page, you now know how to identify:
Why this matters
- • Have more informed conversations with your care team.
- • Better understand treatment discussions.
- • Know which clinical trials may be relevant.
- • Feel more confident reading future medical reports.