Cytogenetics

The Cytogenetics Laboratory of our department provides a comprehensive range of chromosome assessment services for various hematological disorders to both diagnose and to guide risk-directed treatment. Chromosome analysis and Fluorescence in situ hybridization (FISH) assays can detect aneuploidy, structural rearrangements such as translocations, deletions, inversions and monitor the status of bone marrow transplant (sex-mismatched donor) in patients with hematological malignancies. In addition to these tests, chromosome breakage analysis using Mitomycin C is offered to patients with bone marrow failure to confirm a diagnosis of Fanconi anemia.

The laboratory is supported by highly trained staff including cytogenetic technologists, research personnel and department faculty. The Cytogenetics facility is equipped with high-end microscopes for bright-field, phase contrast and fluorescent imaging(Carl Zeiss, Germany). Other resources include a temperature controlled, slide processing system- Thermobrite (Abbott Molecular) for insitu- denaturation and hybridization procedures. Complete cell culture procedures which are vital for chromosome analyses are performed using standard equipment for cell culture including CO2 incubator and Laminar flow hood (Thermo Fisher Scientific). All imaging studies are performed using computer-assisted digital imaging and analysis systems supported by sophisticated software(Metasytems ,Germany).

The laboratory also provides technical support to various national and international collaborative research projects conducted by the faculty of our department. The cytogenetics laboratory staff participate in the biannual proficiency testing for chromosome analysis and FISH conducted by the College of American Pathologists as part of the external quality assurance program.

The diagnostic services provided by the cytogenetics laboratory include;

Services for Hematologic Malignancies :

Chromosome analysis by G-bandingof bone marrow aspirate/peripheral blood (blasts>10%) Fluorescence in situ hybridization of bone marrow aspirate / peripheral blood / FFPE slides derived from tissue biopsies Specific probes available;
  • Chronic myeloid leukemia : BCR/ABL1
  • Acute promyelocytic leukemia : PML/RARα, RARα
  • Acute myeloid leukemia / myelodysplastic syndrome : CBFß,RUNX1/RUNX1T1, D7S522, EVI1,EGR1, D20S108,CEP 8
  • Acute lymphoblastic leukemia : BCR/ABL1, ETV6/RUNX1, MLL, TCF3,IgH,CDKN2A
  • Multiple myeloma : IgH/FGFR3, IgH/CCND1,TP53,D13S319
  • Chronic lymphocytic leukemia :CEP 12, ATM,TP53,D13S319
  • Lymphoma : CMYC,BCL2,BCL6
  • Hypereosinophilic syndrome :PDGFRα
  • Chimersism : CEPXY

Services for Bone Marrow Failure Syndromes :

Chromosome breakage studies of peripheral blood/bone marrow for the diagnosis of Fanconi anemia