Purpose of this Study
If you and your family join this study, you will:<ul>
<li>Have a 2-3 hour visit in the clinic to meet with the study doctor</li>
<li>Have blood drawn for a test called Exome sequencing</li>
<li>Have a telephone discussion of test results when they are available (6-9 months after the blood is drawn)</li>
<li>Have a 1 hour discussion of test results in the clinic after the telephone discussion</li></ul>
<li>Have a 2-3 hour visit in the clinic to meet with the study doctor</li>
<li>Have blood drawn for a test called Exome sequencing</li>
<li>Have a telephone discussion of test results when they are available (6-9 months after the blood is drawn)</li>
<li>Have a 1 hour discussion of test results in the clinic after the telephone discussion</li></ul>
Who Can Participate?
Eligibility
Children and adults who:<ul>
<li>Have developmental, and/or physical differences that do not have a known cause</li>
<li>Have one or both parents to have their blood drawn</li>
<li>Have at least one parent who can speak and write in English</li>
<li>Have NOT had previous testing called "Exome Sequencing", "Whole Exome sequencing" or "Whole Genome sequencing"</li></ul>
<li>Have developmental, and/or physical differences that do not have a known cause</li>
<li>Have one or both parents to have their blood drawn</li>
<li>Have at least one parent who can speak and write in English</li>
<li>Have NOT had previous testing called "Exome Sequencing", "Whole Exome sequencing" or "Whole Genome sequencing"</li></ul>
What is Involved?
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