Cytogenetics and Genomics Department


Chromosomal abnormalities are the cause of many human disorders and conditions,such as mental retardation, learning difficulty, autism, congenital abnormalities,infertility and miscarriages. Cytogenetics and molecular cytogenetics investigations play a significant role in the diagnosis, prognosis, treatment, and prevention of many human diseases. The Department of Cytogenetics and Genomics is therefore consistently at the forefront of the development and implementation of new tests. It provides a full range of Cytogenetics services including routine chromosomal diagnostics and molecular Cytogenetics (FISH) tests. In addition it also offers highly advanced molecular tests such as array‐CGH (Comparative Genomic Hybridization) for the identification of subtle and submicroscopic copy number changes and QF‐PCR (Quantitative Fluorescent‐PCR) for the prenatal rapid diagnosis (24 hours) of Down syndrome and other chromosomal syndromes. Types of specimens processed include peripheral or fetal blood, amniotic fluid, chorionic villus sample (CVS), skin and products of conception. The Department also maintains the specialized facility for the establishment and cryopreservation of immortal cell lines of patients.

List of Services

1  Chromosomal analysis of CVS (Chorionic Villi Sample) Prenatal diagnosis of CVS for the detection of chromosomal anomalies e.g. Down syndrome, other ...

Submitting Samples

Procedures for submitting samples for each sample type.


Since 1998, the department and all of its services are accredited by the College of American Pathologists (CAP, USA, LAP Number 6848901 AU-ID 1191310)