Our goal is to obtain the most accurate information that we know will fundamentally affect individuals' lives and to provide clinicians with the most reliable advice for their decisions.
Please enter subscribe form shortcode
Please enter instagram feed shortcode
It is the section that examines the number and structure of chromosomes, which contain molecules that carry hereditary information, that is, the physical carrier structures of our genes. In the analyses performed here, the chromosomes to be examined are obtained from cells capable of dividing, such as blood, skin, amniotic cells, and some tissues such as bone marrow, chorionic villi and testes.
Conventional cytogenetics is still considered the “gold standard” in prenatal and postnatal diagnosis because it provides information about all microscopically detectable anomalies on the whole genome.
It is the section that studies changes at the DNA and RNA level. Determination of mutations and/or genotypes that lead to a hereditary disease, carrier analysis of a genetic disease and predisposition analysis to multifactorial diseases, single gene diseases (such as Thalassemia, FMF) are studied.
Techniques used in this department;
Real-Time PCR is a technique for detecting and quantifying mutant DNA in real time using fluorescent dyes. The fluorescence signal increases in direct proportion to the amount of PCR product. Our laboratory is equipped with a LightCycler® 480 Instrument II system.
MLPA is an easy-to-use multiplex PCR technique for detecting copy number changes for more than 50 regions in a genomic DNA or RNA sequence that can distinguish even a single nucleotide change.
Sanger Sequencing Discovered in 1977 and considered as gold standard for a very long time, this method is based on classical chain termination using ddNTP. ABI 3500 sequencing device with 8 capillaries is used in our laboratory.
a) Primary PCR
b) Sequencing reaction
c) Capillary electrophoresis and computerized evaluation
Next Generation Sequencing (NGS): NGS is a high-depth sequencing method based on the simultaneous sequencing of millions of fragments of DNA or RNA from a sample. Our laboratory has Ion Genestudio S5 sequencing system, Illumina MiSeq and NextSeq platforms.
Cytogenetic and molecular methods are used together. The aim is to assess the number and organization of chromosomes and the presence/absence of DNA sequences.
In this section, FISH and Array-CGH techniques are used;
FISH is a method using “probes” that are designed to bind to certain regions of chromosomes and emit radiation when bound. It involves binding to the target region and analyzing the emitted radiation through appropriate filters in a microscope. Aneuploidy in individuals and embryos can be recognized by FISH analysis in many samples such as blood, amniotic fluid, embryos and abortion material. This method is also used for cancer and heamtological diseases.
Array-CGH (Molecular Karyotyping) A-CGH is a technique, also known as molecular karyotyping, that can detect genomic irregularities at the DNA level and across the entire genome. This method has the advantages of detecting changes ranging from 50-100Kb copy number, not requiring a metaphase plate, and needs a small amount of DNA sample for the study. Agilent Microarray Platform is available in our laboratory.
