“We care about you, Our patient’s well-being is our priority.”

Department of Clinical Genetics and Genomics

The Vision

To establish a comprehensive clinical genetics and genomics service in Pakistan.

The Mission

• To implement Parental Diagnosis of lethal inherited genetic disorders.
• To develop the highest level of expertise for the diagnosis of lethal inherited 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.

Genetic Counseling

The Clinical Genetics team at NIBD & BMT provides comprehensive diagnostic services and genetic counseling to pregnant women, newborns, children and adults with a known or suspected genetic disorder and provides multidisciplinary, consultative care to patients and their families whose condition or family history suggests an inherited risk of Storage Disorder, Cancers and other inherited diseases.

We provide cancer risk assessment, comprehensive recommendations for managing cancer risk, and psycho-social support for families affected by hereditary cancer. We also conduct research into many aspects of cancer risk and its management.

The genetic counselor will work with you to determine the best tests and may suggest testing for other family members.

The genetic counselor will help and guide in interpretation of test results , assessment of the medical needs of those affected with a genetic disorder, review of the benefits, risks and limitations of prenatal diagnostic options and counseling for parents, future parents and, as appropriate, extended family members, to determine the chance that a child or a family member has a genetic disorder.

Facilities

1. Diagnosis of more than 200 inherited genetic diseases in children.
2. Prenatal diagnosis of over 200 inherited genetic diseases of identify affected fetuses.
3. Detection of more than 150 genetic mutations in cancer (Blood Cancers included) patients to confirm the diagnosis and risk stratify them.
4. Detection of more than 40 genetic defects responsible for cardiomyopathy in children.
5. Genetic counseling before and after testing.