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What cells are used for cytogenetic analysis?

5.4 Tissue Samples and Cell Culture Chromosome preparations for cytogenetic analysis are made from dividing cells, either directly from tissue samples (e.g., bone marrow, testis, chorionic villi, neoplastic tissue) or after cell culture (biopsy of skin or almost any other living tissue including amniotic fluid cells).

What is cytogenetic analysis?

Cytogenetics involves testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromosomes. Changes in certain chromosomes may be a sign of a genetic disease or condition or some types of cancer.

What is cancer cytogenetics?

“A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.” (

What are indications for cytogenetic analysis?

The main indications of cytogenetic studies in congenital genetic diseases are: Abnormal ultrasound findings. Abnormal biochemistry results. Recurrent miscarriages.

What is the purpose of cytogenetics?

The purpose of cytogenetics is to study the structure and normal and pathological functioning of chromosomes (condensation, recombination, repair, segregation, transmission) and chromatin (organization and role in the regulation of gene expression).

How many types of cytogenetics are there?

Techniques used include karyotyping, analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH).

What is the importance of cytogenetic analysis?

Cytogenetic analysis is very crucial in the diagnosis of oncologic and hematologic disorders. It helps in the diagnosis and classification of disease as well as in planning treatment regimens and monitoring the status of disease.

How is cytogenetic testing performed?

Cytogenetic testing is performed in pregnancy on samples obtained in utero via amniocentesis or by chorionic villus sampling to identify a fetus with chromosomal abnormalities, such as trisomy 21 in Down syndrome.

Why cytogenetic analysis is important?

When would cytogenetic testing be used?

Cytogenetic testing is used in haematological cancers such as chronic myeloid leukaemia where a specific reciprocal translocation between chromosomes 22 and 9 results in the Philadelphia chromosome, that is present in 95% of cases.

What is conventional cytogenetic analysis?

Conventional cytogenetics, the study of chromosomes by G bands, is used for karyotype analysis of tumor cells. These techniques can be used to rule out cryptic or submicroscopic anomalies in normal karyotypes, identify marker chromosomes, and enhance the study of anomalies present in complex karyotypes.

What is cytogenetic result?

MM is characterized by several cytogenetic abnormalities that occur at various time points in the disease course. The interpretation of cytogenetic results in MM is complicated by the number and complexity of the abnormalities, the methods used to detect them and the disease stage at which they are detected.