Hereditary diseases are caused by alterations (mutations) in the sequence of the genetic material (DNA) that each individual carries within their cells. These mutation do not only cause disease in the individual carrying them, but can be inherited and cause disease in subsequent generations.

The molecular diagnostic assays employed in the Molecular Genetics Laboratory provide a direct approach to determine weather an individual carries a disease associated gene mutation. These tests are particularly well suited diagnosis, pre-symptomatic diagnosis, carrier detection, and genetic screening.

The Molecular Genetics Laboratory provides prenatal and postnatal diagnosis for certain inherited disorders and diagnosis of carrier status for different hereditary disorders. In Addition, determination of genetic susceptibility and predisposition to multi-factorial diseases is offered. Currently we provide genetic testing for the following:

The laboratory’s ability to identify new diseases casing mutations as well as detecting the presence of known and well-established pathogenic mutations, makes it unique in the DNA diagnostic field in the Middle East.

The research group is constantly working towards the development of unprecedented testing methodologies and towards expanding the spectrum and number of diseases diagnosed through molecular DNA testing. Thus, the laboratory not only offers diagnostic services for the detection of mutations, but also is engaged in mutation identification and determination of the frequency of these mutations amongst the Arab population.

Since the laboratory was established six years ago it has participated successfully in the College of American Pathologist Proficiency testing program (external qulity control) for each analyte tested. The laboratory is also a member of the American Association for Laboratory Accreditation. This ensures that all diagnostic tests, run by the laboratory, reach highest international standards.