Molecular Genetics Laboratory

Single gene disorders are caused by changes in a person’s DNA sequence. They comprise a large group of genetic diseases (nearly six thousand three hundred and fifty known diseases so far). Molecular tests are performed by analyzing DNA samples extracted from blood or other tissues of the body; these tests determine whether a person carries a mutation or mutations in the gene or the genes associated with a particular genetic disorder (molecular diagnosis of an affected individual or a carrier of a genetic disease). Almost all molecular genetic tests use polymerase chain reaction (PCR) in order to amplify a single copy of a DNA fragment with a specific sequence in to millions of copies. At the Molecular Genetics Laboratory of this  center, numerous single gene diseases including thalassemia, congenital deafness and blindness, metabolic disorders, mental retardations, hereditary neuromuscular disorders, hereditary skin diseases, congenital skeletal abnormalities, cancers, male and female infertility and recurrent miscarriage are tested for. Prenatal diagnosis (PND) is also available in almost all of the above mentioned diseases. The center also collaborates with reputable genetic centers around the world in order to conduct tests using Next-Generation Sequencing (NGS). Therefore, simultaneous analysis of multiple genes using NGS technique such as multigene panels for genetic disorders, whole exome sequencing (WES) and Non-Invasive Prenatal Testing (NIPT) services are also offered by this center.

Milad Genetic Medical Center