Patients

All of us have approximately 20,000 genes in almost every cell in our bodies. These genes are the blueprint or instructions that tell our bodies how to grow and develop. Although most of our genetic instructions are similar, we all carry genetic differences (or variants) that are unique to us!

Sometimes, these variants cause 1 or more genes to stop working or work differently than expected. These genetic variants can result in a genetic disease.

Genetic testing can help:

• Make or confirm a diagnosis
• Inform decisions about current or future healthcare
• Provide a basis for your clinician’s diagnosis and recommendations for treatment and care
• Support your decisions about family planning for yourself or other family members
• Give other family members the opportunity to learn their genetic status

If you are interested in genetic testing, please discuss with your healthcare provider which test(s) may be best for you.