Other Clinical Genetics Services
General Genetics Clinic
The General Medical Genetics Clinic annually serves more than 1,000 infants, children and adults, referred for suspected chromosomal abnormalities, congenital birth defects and malformation syndromes, inborn errors of metabolism, developmental delay, connective tissue disorders, neurofibromatosis, and mitochondrial disorders among many others. Members of our team collect thorough information about each patient’s medical and family history, complete a physical exam, and provide genetic counseling and ongoing management for individuals with these rare conditions. Approximately 50% of patients remain without a diagnosis following a genetic evaluation; therefore, we continue to follow hundreds of patients over the years as new information and technologies are developed.
For Appointments: 919-684-2036, option 1 or 919-668-4000
Clinic Hours: Monday, Tuesday, Thursday, and Friday between 8:00 am and 12:00 noon.
Clinic Location:
Duke Children's Hospital & Health Center, 2nd Floor
2301 Erwin Road
Durham, NC 27710
Tel: 919-668-4000
[Directions]
Other important information: Please send medical records prior to your appointment or bring them with you. Helpful medical records include clinic notes from previous visits to medical specialists, laboratory testing reports, particularly any previous genetic testing or medical records from other family members who may have a genetic disorder. It may also be helpful to bring family history information and family photos to your appointment. If you are coming to your appointment with a child, please bring toys, books, and snacks to keep your child entertained.
In many cases, people have blood drawn at their appointment for genetic testing. You may want to check with your medical insurance regarding coverage. Duke Clinical Labs Client Services may be able to assist you with questions at 919-613-8400. In most cases, we are unable to tell you what tests will be ordered until we have an opportunity to meet with you. Following your appointment, if there is a billing issue you wish to discuss you can contact PRMO customer service at 919-620-4555.
Metabolic Clinic
Duke Metabolic Clinic specializes in the diagnosis, management and care of individuals with inborn errors of metabolism (IEM). Our clinic involves board certified biochemical geneticists, a metabolic dietician, and numerous mid-level health care providers. Care is facilitated by onsite laboratories for metabolic disease (Mass Spectrometry Facility, Glycogen Storage Disease Laboratory). Conditions we most frequently see include: glycogen storage diseases (types 1, 2 and 3), Gaucher disease, and fatty acid oxidation disorders. While these are most frequent, we also care for many individuals identified with IEMs via newborn screening, individuals with mitochondrial disease and individuals with numerous other IEMs.
For Appointments: 919-684-2036, option 2.
Clinic Hours: Mondays, and the second Thursday of each month
Clinic Location:
Lenox Baker Children's Hospital
3000 Erwin Road
Durham, NC 27705
Tel: 919-684-6669
[Directions]
Other important information: Medical records are required for appointment scheduling. Metabolic Clinic appointments can be quite lengthy. Although there is no cafeteria at Lenox Baker, but there are a number of restaurants nearby where food can be purchased. We suggest that you bring toys, books, and snacks to keep you and/or your child entertained. Please also bring any medical equipment and medical food (formula) necessary for standard care.
Individuals with known diagnoses of IEMs often require additional studies in addition to a physician visit to monitor their condition. Please be aware that these additional studies (for example ultrasound or MRI) may occur in a different physical location on campus. Please alert staff ahead of time to any physical limitations you may have.
Autism/Medical Genetics Clinic
Autism Spectrum Disorders (ASD) is a heterogeneous group of disorders, and multiple genetic factors have been identified. The cause of ASD is often difficult to determine, and geneticists are able to identify the specific underlying cause in approximately 10-20% of individuals with ASD. The medical genetics evaluation of ASD typically follows a multi-tiered approach based on the family history and clinical presentation of the patient. Families concerned about general genetic conditions may also be seen in this clinic.
For Appointments: 919-684-2036, option 1
Clinic Hours: Third Thursday and first and third Friday of each month between 8:00 am and 11:00 am.
Clinic Location:
Duke children's Hospital & Health Center, 3rd Floor
2301 Erwin Road
Durham, NC 27710
Tel 919-668-4000
[Directions]
Other important information: If you are coming to your appointment with a child, please bring toys, books, and snacks to keep the child entertained.
In many cases people have blood drawn at their appointment for genetic testing. You may want to check with your medical insurance regarding coverage. Duke Clinical Labs Client Services may be able to assist you with questions at (919) 613-8400. In most cases we are unable to tell you what tests will be ordered until we have an opportunity to meet with you. Following your appointment, if there is a billing issue you wish to discuss you can contact PRMO customer service at (919) 620-4555.
Cardiovascular Genetics Clinic
The Cardiovascular Genetics Clinic specializes in the diagnosis, management, and care of individuals with a suspected or known diagnosis of any genetic condition with a major cardiovascular component, such as familial cardiomyopathy (dilated or hypertrophic), long QT syndrome, Barth syndrome, Danon disease, Goldenhar syndrome, muscular dystrophy, Emery-Dreifuss syndrome, Noonan syndrome, tuberous sclerosis, Williams syndrome, heterotaxy, among others. We see patients of all ages, from infancy to adult. Stephanie Burns Wechsler, MD is both a board-certified medical geneticist and cardiologist. After the diagnosis is made, we follow our patients at least annually to coordinate their care among various specialists and to manage the genetic aspects of the disorder. In addition, we can manage the cardiologic aspects of the disorder for patients who do not already have a cardiologist. Evaluations include taking a careful medical history, family history, and physical exam. We can also schedule echocardiograms and EKGs if needed. Identifying a patient with a cardiovascular genetic disorder has important health implications not only for that individual but also other members of the family.
For Appointments: 919-668-4000 or 919-668-2196 for special requests
Clinic Hours: Second and fourth Monday of each month between 1:00pm and 5:00pm
Clinic Location:
Duke Children's Hospital & Health Center, 2nd Floor
2301 Erwin Road
Durham, NC 27710
Tel: 919-668-4000
[Directions]
Other important information: It is very important we have copies of pertinent medical records prior to the clinic visit. We would like copies of any genetic tests, echocardiograms, EKGs, or other records that may help in our evaluation. In addition, please bring copies of medical records from other family members who may also have a genetic disorder. In many cases, it is helpful to bring family photos and family tree information to your appointment.
Many of our patients have blood drawn at their appointment for genetic testing. You may want to check with your medical insurance regarding coverage. Duke Clinical Labs Client Services may be able to assist you with questions at 919-613-8400. In most cases, we are unable to tell you what tests will be ordered until we have an opportunity to meet with you. If there is a billing issue you wish to discuss following your appointment, you can contact PRMO customer service at 919-620-4555.
Fragile X Syndrome Clinic
The Fragile X Clinic is a clinic for families diagnosed with Fragile X syndrome. Individuals affected by Fragile X syndrome are seen by a team including a developmental pediatrician, clinical child psychologist, and a genetic counselor. The clinic medical director is Ave Lachiewicz, MD.
For Appointments: 919-668-4468 or 919-668-4000
Clinic Hours: Fridays between 1:00pm and 4:00pm
Clinic Location:
Child Development and Behavioral Health Clinic
402 Trent Drive
Durham, NC 27710
Tel 919-668-5559
[Directions]
Marfan/Connective Tissue Disorder Genetics Clinic
The Marfan/Connective Tissue Disorders Genetics Clinic specializes in the diagnosis, management, and care of individuals with a known or suspected genetic connective tissue disorder, such as Marfan syndrome, the Ehlers-Danlos syndromes, Loeys-Dietz syndrome, hypermobile joints, dilated aorta, among others. We see patients of all ages, from infancy to adult. Stephanie Burns Wechsler, MD is both a board-certified medical geneticist and cardiologist. After the diagnosis is made, we follow our patients at least annually to coordinate their overall care and manage the genetic aspects of the disorder. We can manage the cardiologic aspects of a connective tissue disorder for patients who do not already have a cardiologist. Evaluations include taking a careful medical history, family history, and physical exam. We can also schedule echocardiograms if needed. When a diagnosis can not be initially made, we continue to re-evaluate patients, especially since connective tissue disorders are progressive. Identifying a patient with a connective tissue disorder has important health implications not only on that individual but also other members of the family.
For Appointments: 919-668-4000 or 919-668-2196 for special requests
Clinic Hours: First and third Monday of each month between 1:00pm and 5:00pm
Clinic Location:
Duke Children's Hospital & Health Center, 2nd Floor
2301 Erwin Road
Durham, NC 27710
Tel: 919-668-4000
[Directions]
Other important information: It is very important we have copies of pertinent medical records prior to the clinic visit. We would like copies of any genetic tests, echocardiograms, EKGs, or other records that may help in our evaluation. In addition, please bring copies of medical records from other family members who may also have a connective tissue disorder. In many cases it is helpful to bring family photos and family tree information to your appointment. Many of our patients have blood drawn at their appointment for genetic testing. You may want to check with your medical insurance regarding coverage. Duke Clinical Labs Client Services may be able to assist you with questions at (919) 613-8400. In most cases, we are unable to tell you what tests will be ordered until we have an opportunity to meet with you. If there is a billing issue you wish to discuss following your appointment, you can contact PRMO customer service at (919) 620-4555.
22q11 Deletion Syndrome Clinic
The Chromosome 22q11 Deletion Syndrome Clinic is available to children and adults with the diagnosis for ongoing care. Regular visits are scheduled to assess and address medical, developmental, behavioral and psychological/psychiatric problems. Depending on the individual's needs, multiple specialty clinics are available during the visit.
For Appointments: 919-681-2524
Clinic Hours: Third Thursday of each month between 1:00pm and 4:00pm; Friday between 8:00am and 4:00pm
Clinic Location:
Lenox Baker Children's Hospital
3000 Erwin Road
Durham, NC 27705
Tel: 919-684-6669
[Directions]
Other important information: Please bring your medical records, including test results. Please bring toys and other items for your child as needed. We will be discussing the patient's medical and family history, after which he or she will be examined. We will then discuss all the problems and recommendations in detail. Please be prepared for the visit to last between 60-90 minutes. Blood may be drawn for screening laboratory tests and others as indicated.
Quick Links
- Medical Genetics Home
(Duke Children's) - Division of Medical Genetics
(Duke School of Medicine)
- Clinical Genetics Services
- Pompe Disease Clinical and Research Program
- Comprehensive Down Syndrome Program
- Glycogen Storage Disease Clinical and Research Program
- General Genetics Clinic
- Metabolic Clinic
- Autism/Medical Genetics Clinic
- Cardiovascular Genetics Clinic
- Fragile X Syndrome Clinic
- Marfan/Connective Tissue Disorder Genetics Clinic
- 22q11 Deletion Syndrome Clinic
Duke Resources
Articles
- Clinical Genetic and Genomic Evaluation: What's at Duke
- Duke's Pompe Research Inspires Movie
- Giving Wings to Down Syndrome Research
- First Trimester Screening
- Maternal Serum Screening
- Autism: What It Is, What Can Be Done
- Gene Therapy Could Save Kids From a Lifetime of Eating Cornstarch
Web Sites
Related Content
- American Board of Medical Genetics
- American College of Medical Genetics
- American Society of Human Genetics
- American Society of Gene Therapy
- Gene Tests
- Genetic Alliance
- National Society of Genetic Counselors
- North Carolina Medical Genetics Association
- Association for Glycogen Storage Disease (AGSD)
- Association for Glycogen Storage Disease (UK)
- Acid Maltase Deficiency Association, Inc.
- National Fragile X Foundation
There are many ways you can help to support research and treatment for genetic and metabolic conditions. Concerned individuals, companies and organizations have made it possible for Duke University to continue its research efforts and programs to aid those with genetic conditions and their families. If you would like to make a contribution, please visit our online form and specify Medical Genetics in the Gift Designation section.
