Genomic Study of Disorders of Unknown Causes - Clinical Trial

What is the 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

What is the Condition Being Studied?

Developmental and Medical Conditions with Unknown Cause

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

We are doing this study to better understand the genetic causes of developmental and/or physical differences.

Full Title

Genomic Study of Medical, Developmental, or Congenital Problems of Unknown Etiology

Principal Investigator

Vandana Shashi, MD, MBBS

Medical Genetics Specialist

Protocol Number

IRB: PRO00032301

Phase

Phase N/A

Enrollment Status

Open for Enrollment

919-681-5698