To establish a comprehensive clinical genetics and genomics service in Pakistan.
To implement prenatal diagnosis of lethal inherited genetic disorders.
To develop the highest level of expertise for the diagnosis of lethal genetic disorders in children.
To provide Genetic Diagnostic Services in the areas of Cancer, Heart Disease, neurological disorders.
To Provide genetic counseling service to affected families.
To establish training and research program.
- Prenatal diagnosis of over 200 inherited genetic diseases of identify affected fetuses.
- Diagnosis of more than 200 inherited genetic diseases in children.
- Beta Thalassemia, Alpha Thalassemia.
- Down’s Syndrome, Patau Syndrome, Edward Syndrome.
- Severe combined immunodeficiency syndrome.
- Duchene Muscular Dystrophy.
- Hemophilia A, B, Factor VII, FXIII, FI Deficiency.
- Platelet Function disorder including GlanzmannThrombesthenia, Bernard Soulier Syndrome and others.
- Lysosomal Storage Disoder (Gaucher Disease, NiemannPlck).
- Fanconi Anemia.