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- Genetics and Genomics
- Genetic Clinics
Genetic Clinics
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Adult General Genetics Clinic
During the initial visit to Adult General Genetics clinic, patients undergo a thorough evaluation, including a physical examination and genetic counseling. We discuss testing options, and once results are available, we refer patients to the appropriate specialists for up-to-date clinical management.
We provide long-term, ongoing care with annual follow-ups to address health needs and updates in genetic understanding.
Our team manages many conditions. Although this is not a complete list, here are a few examples:
- Eye disorders
- Chronic kidney disease
- Neurofibromatosis (NF): Includes NF1, characterized by café-au-lait spots, neurofibromas and bone deformities, and NF2, often involving vestibular schwannomas that can cause hearing loss and balance issues. Diagnosis combines clinical evaluation, imaging, and genetic testing to identify mutations in the NF1 or NF2 genes.
- Cystic fibrosis (CF) and CFTR-related disorders: CF results from mutations in the CFTR gene. It affects mucus production in the lungs, digestive system and other organs. Beyond classic CF symptoms such as chronic respiratory infections, pancreatic insufficiency and male infertility, our clinic also addresses the complexities of CFTR-related disorders, which may be associated with milder or atypical symptoms. These can include sinus disease or isolated organ involvement.
Advancements in genetics reveal that modifier genes outside CFTR can influence disease severity, progression, and response to treatment. Identifying these modifiers helps tailor management to the individual. Our clinic provides expertise in navigating these complexities, ensuring personalized care for both classic CF and CFTR-related disorders.
Our clinic provides initial diagnosis, second opinions, and ongoing care for genetic conditions.