Cytogenetics is the area of biology that deals with the study of chromosomes. Classic cytogenetics provides both an overview of the genome and the ability to identify chromosome rearrangements and numeric abnormalities. Molecular cytogenetics permits a finer examination of specific areas of the genome and has been a powerful tool in gene mapping. Application of molecular cytogenetic techniques, particularly fluorescence in situ hybridization (FISH) and array-based comparative genomic hybridization (array CGH), now makes possible routine diagnosis of microdeletion syndromes and cryptic chromosome rearrangements in the clinical laboratory. Furthermore, The use of FISH with uncultured cells also allows assessment of a single blastomere, permitting genetic screening of preimplantation embryos in a procedure commonly termed preimplantation genetic diagnosis.
Constitutional cytogenetics
Cytogenetics in Reproduction
Cancer cytogenetics
The involvement of chromosomal aberrations and the deviation from the normal copy number of a given chromosome (aneuploidy) in tumours by utilizing Bone marrow samples for conventional cytogenetics studies.
Molecular cytogenetics
Fluorescence in situ hybridization (FISH) is a rapid analysis of chromosomal aneuploidies in dividing and non-dividing cells. These studies are performed using the appropriate probes on interphase nuclei or metaphase chromosomes depending on the reason for referral.
Congenital
Pre-natal and post natal genetic and diagnostic testing.
Neoplasia
Prognostic and predictive chromosome analysis in hematological malignancies.
Chromosome rearrangements:
Post transplant:
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