Introduction to cytogenetics
Cytogenetics It is a branch of genetic science that studies the structure, number and changes of chromosomes in body cells. In this science, chromosomes using specialized methods such as Banding and advanced techniques Molecular cytogenetics They are checked to identify chromosomal abnormalities, genetic diseases and hereditary disorders with high accuracy. These tests play an important role in diagnosis, prevention and choosing the right treatment method for many diseases.
Every human naturally has 46 chromosomes It contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes (X and Y). Half of these chromosomes are transferred from the father and the other half from the mother to the fetus. Any change in the number or structure of chromosomes can be the basis of congenital diseases, genetic disorders, infertility, repeated miscarriages and some cancers. For this reason, Cytogenetic tests One of the most important diagnostic tools in medical genetics is genetic counseling and investigation of hereditary diseases.
Cytogenetic sections
Prenatal diagnosis
Investigation of chromosomal abnormalities in amniotic fluid, placental villi and fetal blood by banding method
Diagnosis after birth
Evaluation of chromosomal disorders in peripheral blood and tissue with standard methods and banding with high resolution
Cancer cytogenetics
Diagnosis and monitoring of leukemia, lymphoma and other blood malignancies, treatment selection and evaluation of response with bone marrow
What is karyotype?
Karyotype It is a method to check the number, size and structure of human chromosomes. This test allows the identification of numerical or structural changes of chromosomes and plays an important role in diagnosing many genetic diseases, congenital anomalies, infertility, repeated miscarriages and chromosomal disorders.
In a karyotype test, the chromosomes are placed next to each other in an orderly manner and compared to the natural pattern to identify any deletions, additions, translocations, or structural changes.
Who needs a karyotype test?
Family chromosomal history
Down, Edward and Pateau syndromes
Chromosomal abnormality in relatives
Gender determination disorders
Repeated miscarriage
Infertility and sterility of couples
Severe menstrual disorders
Congenital anomalies
Investigating the cause of stillbirth
Genetic examination before and during pregnancy
What is molecular cytogenetics?
Molecular cytogenetics It is one of the most advanced branches of genetics that examines the structure and changes of chromosomes with high accuracy by combining cytogenetic and molecular biology methods. These techniques allow the detection of genetic abnormalities and very small chromosomal changes.
Molecular cytogenetic tests are widely used in the diagnosis of genetic diseases, chromosomal disorders, cancers, congenital anomalies, neurological diseases and other hereditary diseases. Also, these methods have played an important role in prenatal diagnosis, postnatal diagnosis, genetic counseling, selection of treatment methods, and disease process monitoring.
Using new technologies such as FISH and Array CGH Many genetic abnormalities that cannot be detected are diagnosed with high accuracy. This increases the speed of diagnosis, reduces test errors and selects the most appropriate treatment path for patients.
Today, molecular cytogenetics is one of the main pillars Accurate diagnosis of genetic diseases It is considered and plays an important role in preventing the birth of babies with chromosomal disorders, evaluating infertility, checking repeated abortions and early diagnosis of some cancers.
Applications of cytogenetics
Diagnosis of chromosomal abnormalities
Examining the number and structure of chromosomes
Infertility and frequent miscarriage
Evaluation of genetic causes of couples
Congenital genetic diseases
Diagnosis of hereditary and congenital disorders
Blood cancers and tumors
Examining the chromosomal changes of cells
Pre-pregnancy screening
Assessment of the risk of transmission of genetic diseases
FISH and Array CGH tests
Identification of precise genomic abnormalities
Subtypes of molecular cytogenetics
Array CGH test
Array CGHIt is one of the most accurate methods of examining the whole genome, which identifies the deletion or addition of chromosomal fragments with high resolution. This test is used in the diagnosis of developmental delay, intellectual disability, autism spectrum disorder (ASD), congenital anomalies and many genetic diseases.
FISH test
FISH (Fluorescence In Situ Hybridization)It is an accurate method to identify chromosomal abnormalities and genetic changes. This test in prenatal diagnosis, checking syndromes such asDawn, Edward, Pato, Turner, and KlinefelterIt is widely used to diagnose some cancers and identify genetic disorders.
CMA analysis
Chromosomal Microarray (CMA)It is one of the most advanced genome screening methods that detect many chromosomal abnormalities undetectable by karyotyping. This test is recommended for developmental delay, intellectual disability, autism spectrum disorder and congenital abnormalities.
MLPA test
MLPA (Multiplex Ligation-dependent Probe Amplification)It is a fast and accurate method to check the deletion, addition or change of the copy number of genes. This test is used in diagnosing a wide range of genetic diseases, investigating microdeletions and microduplications, and identifying some gene mutations.
Cytogenetic services at Dr. Beski Hospital
Using advanced equipment and modern cytogenetic technologies, Dr. Beski Hospital’s genetics laboratory offers specialized services for diagnosing chromosomal abnormalities and genetic diseases according to today’s standards. These services include Karyotype test, FISH, Array CGH, CMA, MLPA and other specialized cytogenetic methods.
By carefully examining the results of tests and clinical records, the specialists of this center accompany patients and doctors in choosing the most suitable path of treatment and care in diagnosing genetic disorders, evaluating infertility, repeated abortions, congenital anomalies, hereditary diseases and some cancers.