Genomic Study of Disorders of Unknown Etiology - Clinical Trial
What is the Purpose of this Study?
We are doing this study to better understand the genetic causes of developmental, and/or physical differences.
Developmental and Medical Conditions with Unknown Cause
Who Can Participate in the Study?
Children and adults who:
- Have developmental, and/or physical differences that do not have a known cause
- Have one or both parents to have their blood drawn
- Have at least one parent who can speak and write in English
- Have NOT had previous testing called "Exome Sequencing", "Whole exome sequencing" or "Whole Genome sequencing"
What is Involved?
If you and your family join this study, you will:
- Have a 2-3 hour visit in the clinic to meet with the study doctor
- Have blood drawn for a test called Exome sequencing
- Have a telephone discussion of test results when they are available (6-9 months after the blood is drawn)
- Have a 1 hour discussion of test results in the clinic after the telephone discussion