Laboratory of Medical Genetics
Genetics as a branch of biological science, studies the correlation between genes and heredity. Chromosomal and molecular analysis is considered an essential component of the important work-up for individuals with congenital malformations, mental retardation, multiple spontaneous miscarriages, ART failures, or infertile couples. The Genetic Laboratory of Khorasan razavi was established in 2008 to provide general molecular and cytogenetic services for the Iranian couples. This center offered both molecular and Cytogenetics. Some of the individuals who referred to Genetic Laboratory may be recommended to attend genetic counseling or undergo prenatal diagnosis for the following reasons: • Male infertility (Azoespermia or Severe Oligospermia) • Family history of a genetic condition or chromosome abnormality • Parents of a child with mental retardation, autism • Previous unexplained stillbirth or repeated (3 or more) first trimester miscarriages • Individual history with recurrent ART failure • Molecular test for single gene disorders • Primary or secondary amenorrhea • Abnormal maternal serum screening results, ultrasound findings or increased nuchal translucency measurements in fetus Cytogenetics refers to the microscopic analysis of chromosomes and/or genetic materials in individual cells. These studies can be performed on various samples, e.g., fresh blood, amniotic, and 8-cells embryo specimens. Information about genetic abnormalities in infertile patients can be particularly useful for disease classification and monitoring, as well as diagnosis and treatment strategy decision. Genomics refers to the detailed molecular analysis of the entire genome. Peripheral blood is the main type of tissue using for abnormality analysis in the molecular laboratory. A number of the PCR based molecular tests that carried out in this center are screening of mutations in Factor-V (Leiden), MTHFR, Prothrombin, PAII, SRY and FMR1 genes. Besides fluorescence in situ hybridization (FISH) for micro deletion syndromes and other indications such as sex selection, identification of marker chromosomes and specific chromosome rearrangements are provided in Genetic Laboratory of Khorasan Razavi institute.