Rare Diseases & Genetic Disorders

A rare disease affects a small percentage of the population but often has significant health impacts. Examples include muscular dystrophy, cystic fibrosis, Wilson’s disease, and metabolic disorders. These conditions may present with delayed diagnosis, making expert intervention crucial. Our approach emphasizes timely detection, advanced molecular testing, and personalized care plans to improve long-term outcomes.

Genetic disorders occur due to mutations or changes in DNA that affect how the body develops and functions. They can be inherited or occur spontaneously. Common examples include thalassemia, sickle cell anemia, hemophilia, and chromosomal conditions like Down syndrome. With access to modern genetic testing, we help identify these conditions early, guiding families with treatment and preventive care strategies.

Our Rare Disease and Genetics program includes:

• Molecular and Genetic Testing: DNA sequencing, PCR, and chromosomal analysis.
  
• Newborn Screening Programs: Detecting conditions at birth for early treatment.
  
• Biochemical Testing: Identifying metabolic and enzyme-related disorders.
  
• Prenatal and Carrier Screening: Helping families plan with informed choices.
• Clinical Genetics Counseling: Educating patients and families about risks and care options.

Rare diseases often affect multiple organ systems. Our care model integrates specialists across pediatrics, neurology, cardiology, endocrinology, hematology, and nutrition. This ensures a comprehensive and coordinated treatment plan, addressing both medical and lifestyle aspects. Personalized therapies, rehabilitation, and supportive care help patients achieve the best possible quality of life.

We understand that families coping with rare diseases face emotional, social, and financial challenges. Our hospital provides:

• Genetic counseling sessions to explain risks and inheritance patterns.
  
• Patient support groups for shared experiences.
  
• Psychological counseling to manage stress and anxiety.
  
• Guidance on government health schemes and treatment assistance.

Rare diseases demand continuous research for better therapies. We collaborate with research institutions to:

• Explore gene therapy and advanced treatment options.
  
• Participate in clinical trials to give patients access to emerging therapies.
  
• Maintain registries for improved understanding of rare conditions.
  
• Promote awareness campaigns for early recognition and support.

• NABL-accredited labs with advanced genetic testing facilities.
  
• Experienced geneticists, pediatricians, and multidisciplinary specialists.
  
• Patient-centric counseling and continuous family support.
  
• Strong focus on early detection and preventive care.
  
• Commitment to research, innovation, and community awareness.
  

Our mission is to bridge the gap in rare disease management by providing comprehensive, affordable, and compassionate care. We strive to empower patients and families with timely diagnosis, personalized treatment, and lifelong support, ensuring dignity, inclusion, and improved quality of life for individuals with rare and genetic conditions.