Genetics

Medical Genetics and Genomics

The division of medical genetics and genomics provides comprehensive care for infants, children, adolescents and adults with known or suspected genetic conditions. Patients and their families are welcomed upon referral by their physician or self-referral.

Our Evaluation Process

Preparing for Your Visit

Bring your medical records
Gather your family history
Bring laboratory reports from previous genetic testing
Bring a family member or support person with you to your appointment

An evaluation by a clinical geneticist and a genetic counselor.

Extensive review of prenatal, medical and family history by a genetic counselor.
Physical examination, testing and management plan by a medical geneticist.
Coordination of care with primary care provider and other specialty services as needed.

Scheduling an Appointment

To schedule an appointment, please call 843-876-0444. If you have any additional questions, please send us an email at genetics@musc.edu.

Services We Offer

Inpatient and outpatient consultations for known or suspected genetic conditions
Diagnostic laboratory testing
Genetic counseling
Ongoing treatment and management of genetic conditions

Genetic Conditions We Evaluate and Treat

General

Autism spectrum disorders
Birth defects
Chromosomal disorders
Connective tissue disorders
Craniofacial differences
Developmental delays or intellectual disabilities
Growth problems
Hearing or vision impairmentsNeurocutaneous disorders
Pediatric cancer predisposition conditions
Skeletal dysplasias
Single gene disorders
Vascular and overgrowth conditions

Metabolic (Inherited Metabolic Disorders)

Newborn Screening
Inborn Errors of Metabolism
Lysosomal Storage Disorders
Mitochondrial Disorders

Multidisciplinary Clinics

We participate and coordinate with several multidisciplinary services.

Bone Marrow Transplant Program
Krabbe Disease
Mucopolysaccharidosis, Type I
X-linked Adrenoleukodystrophy

Craniofacial Clinic
Cleft lip and/or palate
Craniosynostosis

Neurocutaneous Clinic
Neurofibromatosis, types 1 and 2
Tuberous Sclerosis

Transplant Center
Inherited Metabolic Disorders
• Arginininemia
• Maple Syrup Urine Disease
• Methylmalonic Acidemia
• Ornithine Transcarbamylase Deficiency
• Propionic Acidemia

Vascular Anomalies Program