Purpose of this Study
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
Who Can Participate?
Eligibility
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?
Description
We are doing this study to better understand the genetic causes of developmental and/or physical differences.
Study Details
Full Title
Genomic Study of Medical, Developmental, or Congenital Problems of Unknown Etiology
Principal Investigator
Vandana
Shashi
Protocol Number
PRO00032301
Phase
N/A
Enrollment Status
Open to Enrollment