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Department of Genetics & Rare Disorders

The Molecular genetic diagnostic laboratory provides DNA and RNA based molecular testing services for a wide variety of indications, including inherited genetic disorders.
Molecular techniques are used for direct monitoring of disease status and progression. Once a mutation in an affected individual is identified, genetic testing for family member is available, providing crucial information for the provision of genetic counseling and determination of recurrence risk.
The specialized and trained faculty at Children’s Hospital Karachi is privileged to provide treatment to patients with rare disorders including Gaucher’s Disease, MPS, and Pompe disease through enzyme replacement therapies. The Genetics and Rare Disorder Treatment Program is a unique initiative to register and maintain records of patients with rare disorders to figure out epidemiological disease burden in the 3rd world countries.

Dr. Muhammad ZohaibHead of Molecular GeneticsBS (Biotechnology), PhD (Biochemistry)