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

During your visit

• 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.
• 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.

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

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 impairments
• Neurocutaneous 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

Other Genetic Specialty Services

Our services are integrated with the vast array of genetic specialty services available at MUSC Health.

• Cardiovascular Genetic Counseling: Cardiovascular Genetics Program
• Cystic Fibrosis Genetic Counseling: Cystic Fibrosis Center
• Neuroscience Genetic Counseling:
  
  • Neuromuscular Division
  • Comprehensive Epilepsy Center
  • Movement Disorders Division
  • Huntington’s Disease Society for America Center of Excellence
• Oncology Genetic Counseling: Hollings Cancer Center
• Prenatal Genetic Counseling: Advanced Fetal Care Center

In The News

6/01/25: Newborn screening update

2/12/24: SC Newborn Screening Update

Rare Condition turns three as family raises awareness

Episode 31: Dylan Simon and Doctor Dr. Neena Champaigne

Generic Newborn Screening

Spinal Muscular Atrophy: Diagnosis, Treatment and the Future of Gene Therapy - with MUSC's Dr. Nina

MHWFY Neena Champaigne Preview

Punnett squares to Biogenetics, a Look Into the Genetics Odyssey Int. w/ Dr. Neena Champaigne