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.
What is the Condition Being Studied?
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"

Age Group
Adults, Children

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

Study Details

Full Title
Genomic Study of Medical, Developmental, or Congenital Problems of Unknown Etiology
Principal Investigator
Medical Genetics Specialist
Protocol Number
IRB: PRO00032301
Phase N/A
Contact the Duke Recruitment Innovation Center