Online and in-clinic visits for genetic consultations, counselling and testing

Department of Genetic Rare Diseases

Expert diagnosis, genetic workup, and long-term guidance for rare and undiagnosed genetic conditions — from childhood through adult life — led by Dr. Roshan Daniel, Clinical Geneticist.

Most rare diseases have a genetic cause — and most patients wait years for a diagnosis. We can help shorten and improve that journey.

PEDIATRIC RARE DISEASES

Rare Genetic Diseases in Children

Genetic conditions that appear in childhood — affecting development, growth, the brain, muscles, metabolism, and body structure. When a child has unusual features, delayed milestones, seizures, or a diagnosis that doesn't quite fit, genetics is often where the answer lies.

SYSTEM & ORGAN-SPECIFIC RARE DISEASES

Rare genetic diseases can affect any organ

Rare genetic diseases can affect any organ — the heart, kidneys, liver, brain, eyes, skin, or bones. If a specialist has investigated a condition without a clear answer, a genetics consultation adds a layer of diagnosis that organ-specific testing alone cannot provide.

ADULT-ONSET GENETIC DISEASES

Rare Genetic Diseases in Adults

Not all genetic diseases begin in childhood. Some emerge in adulthood as heart disease, dementia, Parkinson's, cancer, or stroke — running in families in ways that are not coincidental. A genetic diagnosis changes how these conditions are managed, and what family members need to know.
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