Timely detection of Rare diseases can lead to enhanced treatment options. Genetic testing is becoming an increasingly important tool in determining the cause of rare disease, which is any disease that affects a small percentage of the population including Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher's disease, Cystic Fibrosis, Hemangiomas, and certain forms of muscular dystrophies. By leveraging our robust and comprehensive rare disease-centric Bio/Databank, we carefully curate and document all the variants that clinically correlate to symptoms thus providing a comprehensive diagnosis of immune-related diseases.
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