The Duke Sequencing Research Clinic was established in 2012 to serve families of patients with undiagnosed, complex medical problems, developmental delay, and/or physical differences. A primary goal of the clinic is to evaluate patients for rare and ultra rare genetic diagnoses using genetic testing and additional research. A genetic diagnosis has the potential to inform medical and developmental decision-making for patients and their families. Patient evaluation is provided by a team of medical and scientific professionals that are conducting a research study (Duke Pro00032301).
The Sequencing Research Clinic includes a focused genetic evaluation, and starts as a single day, outpatient assessment with a clinical geneticist at Duke University Medical Center in Durham, NC. Genetic testing called exome sequencing (ES) is available through this clinic. In most cases, ES is best performed with samples from the patient and both of the patient’s biological parents. Because the cost of evaluation and testing is covered by research funding, one benefit of the clinic is access to ES for families that may otherwise be unable to access this test.
The ideal patient for the clinic has already had extensive medical and/or developmental evaluation but has NOT received a specific genetic diagnosis that was confirmed by genetic testing. Patients that have already had ES are generally not eligible for this clinic/study.
If you are interested in being considered to participate in this clinic/study, please request referral from your local medical provider. The study team requires medical and developmental records to determine if a patient is eligible to be a seen in this clinic. Ideally, the Duke Sequencing Research Clinic team would like to receive information about a patient’s medical and developmental history, a timeline of symptoms, and a copy of the tests and evaluations that have already been completed.
Referrals with accompanying medical documentation can be sent to:
Undiagnosed diseases are conditions that even skilled physicians cannot diagnose despite extensive clinical investigation. Doctors may not recognize them because they are rarely seen, are little understood, or are rare forms of more common diseases.
Box 103857, Duke University Medical Center, Durham, NC 27710 | Tel: 919 668 1340