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

  • Pre natal karyotype: Fetal cells from Amniotic fluid, Chorionic Villus, Product of conception tissue or fetal blood.
    • Chromosome karyotype, AF
    • Chromosome karyotype, CVS
    • Chromosome karyotype, POC
    • Chromosome karyotype, Fetal Blood
  • Post natal karyotype: Whole blood sample utilizing in vitro culture method to isolate and grow lymphocytes.
    • Chromosome Analysis, Peripheral Blood
    • Chromosome Fragile X study, Peripheral Blood

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.

  • Chromosome Analysis, Bone Marrow
  • Chromosome Breakage study, BM and Peripheral Blood

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.


Pre-natal and post natal genetic and diagnostic testing.

  • Structural anomalies tests (microdeletions)
    • FISH 15 (Prader willi /Angelman region)
    • FISH 22 (Di-George) Deletion syndrome 22q11.2
    • FISH 17 (Miller-Dieker /Isolated Lissencephaly) 17p13.3
    • FISH SRY, SRY detection (Yp11.3)
  • Numerical anomalies tests
    • FISH 13 (Trisomy 13)
    • FISH 18 (Trisomy 18)
    • FISH21 (Trisomy 21)
    • FISH XY


Prognostic and predictive chromosome analysis in hematological malignancies.

Chromosome rearrangements:

  • BCR/ABL1 [t (9; 22) (q34; q11.2)]
  • CLL FISH panel:
    • ATM (11q22.3)
    • 12cen (12p11.1-q11)
    • D13S319 (13q14.3)
    • TP53 (17p13.1)

Post transplant:

  • Centromere targets for chromosome X and Y

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