In the Ochsner Genetics Section, physicians provide evaluation, treatment and genetic counseling to individuals and families with suspected genetic problems, such as developmental delay, autism, birth defects or metabolic disturbances (see below for a more complete list). Consultations for adult patients, expecting couples and their families are also offered. The section works closely with pediatricians, internists, obstetricians and specialists to provide comprehensive care to individuals with genetic diseases. In addition, the Ochsner Genetics Section gives talks at meetings to physicians and small groups to improve education on genetic aspects of the disease and timely recognition of possible genetic abnormalities.
Medical Genetics Consultations
Ochsner’s evaluations consist of a complete medical and family history, physical examination and appropriate laboratory testing to establish causes of patient's problems.
Clinical evaluation, test results, occurrence, causes, nature, prognosis and recurrence risks of a particular condition are discussed in detail. Inquiries from patients, families and healthcare professionals can be addressed on an individual basis by phone, email or a clinic visit.
A variety of prenatal diagnostic genetic studies are possible for many conditions and genetic counseling is provided to couples who choose to have prenatal genetic studies, whether based on family history or existing problems in the fetus.
Cancer Genetics Services
Genetic counseling is available to assess the risks for an individual or families with history of cancer and to determine if genetic testing and clinical follow-up are needed.
Primary Referral Areas
- Autism, Developmental delay, Mental retardation
- Mitochondrial diseases
- Chromosomal disorders
- Congenital anomalies: cardiac, limb & brain anomalies, ambiguous genitalia, skeletal dysplasias, overgrowth, short stature, hearing loss
- Craniofacial Multidisciplinary Clinic: cleft lip and palate, craniosynostosis
- Teratology: drugs & infections affecting the fetus, maternal diabetes
- Metabolic disturbances: lysosomal storage diseases and inborn errors of metabolism
- Neurocutaneous disorders: neurofibromatosis, ectodermal dysplasias
- Connective tissue disorders: Marfan, Ehlers-Danlos, osteogenesis imperfecta
- Adult genetic disorders: neurodegenerative (Huntington's, Alzheimers, etc.), cancer syndromes
- Prenatal counseling: advanced maternal/paternal age, family history of genetic disorders, prenatal diagnosis, assisting reproductive techniques
- Cancer counseling: breast, colorectal, multiple endocrine neoplasia