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About Genetic Testing

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.

What kind of genetic testing does Blueprint Genetics offer? 

Blueprint Genetics is focused on providing genetic testing for inherited diseases in all medical specialties, from cardiology to ophthalmology. You can find all of our tests here. Our tests are meant for healthcare professionals to use as a tool to make or confirm a genetic diagnosis for their patient (or the patient’s family members) when they suspect an inherited disorder.  


Content last modified: 14 July 2022