Clinical Services
The Division offers comprehensive Clinical Genetics Services for
genetic and metabolic diseases including diagnosis, management,
treatment, and genetic counseling. Multidisciplinary specialty clinics
are available for inborn errors of metabolism, Down Syndrome, and
Fragile X Syndrome.
Clinical care, both inpatient and outpatient is provided for
patients and families with genetic conditions, inborn errors of
metabolism, birth defects, malformation and dysmorphology syndromes,
abnormalities of newborn screening tests, developmental delay/mental
retardation and adult onset genetic disorders.
General Genetics Clinic
Overview of Services: The General Genetics Clinic is available to children, teens, and adults who may have or who have a genetic condition. In some cases, we also see families planning or carrying a pregnancy. We take a careful medical history, family history, and physical exam such that we can attempt to explain why a person may have a disability, birth difference, or other medical issue. Having an answer often helps in knowing what to expect for the person's future, how best to help them and anticipate their medical needs, obtain services, and know if the condition may happen again in the family. In addition, we provide ongoing management for individuals with genetic conditions.
Appointments and Contact Information: For appointments please call (919) 684-2036 option 1.
Clinic Hours: We see patients Monday, Tuesday, Thursday, and Friday between 8:00 am and 12:00 noon. You can anticipate your appointment will last approximately 1 hour.
Clinic Location: The Genetics Clinic is located on the 2nd floor of the McGovern-Davison Children's Heath Center. This is the glass building attached to the main Duke Hospital.
Other important information: It is helpful for us to have medical records on the person being seen so that we can perform a full evaluation. Helpful medical records include clinic notes from previous visits to specialists, and reports of laboratory results, particularly any previous genetic testing. Please send medical records prior to the appointment, or bring them with you. In addition, please bring copies of medical records from other family members who may also have a genetic disorder. It may also be helpful to bring family photos and family tree information 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.
Overview of Services: 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 facilited 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.
Appointments and Contact Information: Metabolic clinic is an outpatient service only. For individuals traveling from out of town, we suggest travel NOT occur on the day of clinic. Medical records are required for appointment scheduling. All appointments are made via our office. Please call (919) 684-2036 option 2.
Clinic Hours: The Metabolic clinic is on Mondays, and the second Thursday of each month.
Clinic Location: The Duke Metabolic clinic is held at Lenox Baker Children's Hospital on Erwin Road.
Other important information: Metabolic clinic appointments can be quite lengthy. There is no cafeteria at Lenox Baker, but there are a number of stores nearby where food can be purchased. We suggest that you bring toys, books, and snacks to keep the 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
Overview of Services: Autism spectrum disorders (ASD) are heterogeneous group of disorders. The cause of ASD is often difficult to determine and multiple genetic factors have been identified. The medical genetics evaluation of ASD typically follows a multi-tiered approach which is informed by family history and clinical presentation of the affected individual. Using this approach, geneticists are able to identify the specific underlying cause in approximately 10-20% of individuals with ASD. Families concerned about general genetic disorders may also be seen in this clinic.
Appointments and Contact Information: For appointments please call (919) 684-2036 option 1 and you will be connected to the appointment hub.
Clinic Hours: We see patients on the first and third Friday between 8:00 am and 11:00 am. You can anticipate your appointment will last approximately 1 hour.
Clinic Location: The Autism/Medical Genetics Clinic is located on the 3rd floor of the McGovern-Davison Children's Heath Center. This is the glass building attached to the main Duke Hospital.
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
Overview of Services: 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. Dr. Wechsler 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 amongst 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.
Appointments and Contact Information: For appointments please call (919) 668-4000. If you have special requests you may call (919) 668-2196 and ask to speak with Liz Heise.
Clinic Hours: We see patients every 2nd and 4th Monday of each month. The clinic hours are between 1:00pm and 5:00pm. You can anticipate your appointment will last at least an hour.
Clinic Location: The Clinic is located on the 2nd floor of the McGovern-Davison Children's Heath Center. This is the glass building attached to the main Duke Hospital.
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.
Overview of services: The Duke Comprehensive Down Syndrome Clinic is available to infants, toddlers, children, adolescents, and young adults with Down syndrome. We also have appointments available to expectant parents before their child with Down syndrome is born. Our team is composed of professionals who are all focused on providing family centered, state of the art care for individuals with Down syndrome. We follow health care supervision guidelines developed by the Down Syndrome Medical Interest Group (DSMIG) and American Academy of Pediatrics (AAP) as a tool for systematic preventative care. The clinic allows access to a number of specialists for routine preventative care or to address specific concerns. The clinic staff is also actively engaged in several areas of research focused on improving care for individuals with Down syndrome.
Appointments and contact information: To make an appointment, please call Ms. Sandra Durden at (919) 684-0307. For physicians making a referral, please call Ms. Blythe Crissman at (919) 681-1976 or pager (919) 970-5048. Medical records should be faxed to (919) 668-0414 at the attention of Ms. Blythe Crissman.
Clinic hours: The Duke Comprehensive Down Syndrome Clinic is held on the first and third Thursdays of the month.
Clinic location: The clinic occurs at Lenox Baker Children's Hospital at 3000 Erwin Road, Durham NC 27710.
Other important information: An appointment in the Down syndrome clinic may be quite lengthy. Please bring toys, books, and snacks that you and your family will need. Please be aware that some of our evaluations such as hearing and vision occur in a different physical location on campus. There is complimentary transportation available from Lenox Baker Children's Hospital, where the parking is free of charge. Laboratory work is generally part of the evaluation, unless it has been completed locally in the last six months. Please fax any labwork to (919) 668-0414 to the attention of Ms. Blythe Crissman. Following your appointment, if there is a billing issue you wish to discuss, please contact the PRMO Customer Service at (919) 620-4555.
Please visit the Duke Down Syndrome Clinic web site for additional information.
Fragile X Syndrome Clinic
Overview of Services: 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 Dr. Ave Lachiewicz.
Appointments and Contact Information: For appointments, please call 919-668-4468.
Clinic Hours: A new patient appointment is typically 3-4 hours and a follow-up approximately 1- 2 hours.
Clinic Location: The clinic is in the Child Development and Behavioral Health clinic.
Marfan/Connective Tissue Disorder Genetics Clinic
Overview of Services: 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. Dr. Wechsler 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. For patients in whom 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.
Appointments and Contact Information: For appointments please call (919) 668-4000. If you have special requests you may call (919) 668-2196 and ask to speak with Liz Heise.
Clinic Hours: We see patients every 1st and 3rd Monday of each month. The clinic hours are between 1:00pm and 5:00pm. You can anticipate your appointment will last at least an hour.
Clinic Location: The Clinic is located on the 2nd floor of the McGovern-Davison Children's Heath Center. This is the glass building attached to the main Duke Hospital.
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
Overview of Services: 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.
Appointments and Contact Information: For appointments please call (919) 681-2524. For information regarding the clinic, please call Kelly Schoch (919) 684-2036.
Clinic Hours: The clinic is held in the afternoon of the third Thursday every month and all day on the fourth Friday every month.
Clinic Location: The clinic is located at the Lenox-Baker Children's Hospital on Erwin Road.
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.
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