Genetics and Rare Disease Center
Genetics clinic provides clinical evaluation, genetic testing, genetic counseling, and management for variable genetic and inherited diseases.
Comprehensive and integrated care
The Clinical Genetics Clinic offers comprehensive services spanning the life-course: pre-conception carrier screening, prenatal diagnostics, pediatric dysmorphology, adult-onset genetic disorders, hereditary cancer risk, cardiovascular and neurological genetics, metabolic genetics, and pharmacogenomics
20
years of experienceAmerican Boards
of Clinical Genetics and Biochemical Genetics (Metabolic)3
subspecialized clinics: Neurogenetics Clinic, Down Syndrome Clinic, Cancer Genetics Clinic>700
patients visit per monthCommon Conditions & Subspecialty Clinics.
- Multiple congenital anomalies
- Intellectual disability
- Behavioral disturbances including autism and attention deficit hyperactivity disorder (ADHD)
- Lynch syndrome
- Familial adenomatous polyposis (FAP)
- Li-Fraumeni
- BRCA1/2-related breast and ovarian cancer
- Cardiomyopathies
- Familial arrhythmia syndromes
- Connective tissue diseases like Marfan and Loeys–Dietz syndromes
- Epilepsies
- Muscular dystrophies
- Hereditary ataxias
- Peripheral neuropathies
- Inborn errors of metabolism
- Mitochondrial disorders
- Abnormal newborn screening
- Gene-drug interaction testing
- Optimization of medications in cardiology, psychiatry, oncology, and chronic pain
- Fetal malformation
- Advanced maternal age
- Known teratogen exposures during pregnancy
- Positive family history of genetic disorders
- Abnormal newborn screening results
- Premarital and pre-conception genetic counseling
