Molecular Haematology

The department of haematology is equipped with a state-of-the-art laboratory that utilises a range of conventional and novel technologies and provides molecular diagnosis to a wide range of benign and malignant haematological diseases. With the field of molecular haematology expanding at an exponential pace, the laboratory aims to provide a high-level of clinical and scientific guidance on the haematological diseases, available test choices and its interpretation. Molecular multidisciplinary teams with well trained and experienced staffs cater to the molecular diagnosis for the following haematological divisions.

The Molecular Haematology laboratory offers diagnostic tests for the following:

  • Haematological oncology 
  • Haemostasis and thrombosis (including haemophilia, thrombophilia, thrombotic thrombocytopenic purpura) 
  • Thalassaemias and haemoglobinopathies (including sickle cell disease, unstable and high affinity haemoglobins) 
  • Immunodeficiency disorders 
  • Chimerism analysis (post bone marrow transplantation).

A complete and exhaustive list of the different techniques available and the molecular diagnosis provided by the laboratory is available at

The laboratory has a separate units for DNA and RNA extraction, PCR preparation, PCR and Post PCR analysis, each of which are well separated from the other adhering to the norms of molecular laboratory. Samples for diagnosis are received from different parts of the country and abroad. The department provides HPLC screening for over 1000 suspected thalassemia major /trait patients and around 500 patients get a molecular confirmation of the thalassemias and haemoglobinopathies every year by various standardised methodologies The department is one of the few centres in the country that provide a complete molecular workup for Haemophilia and also for various rare bleeding and coagulation disorders. Around 250 patients undergo molecular testing for Haemophilia A and B in our laboratory every year. We also provide prenatal diagnosis for thalassemia and haemophilia in our department. Along with the cytogenetics and flow cytometry divisions, the department serves as a comprehensive diagnostic centre for various haematological malignancies.

Every year, we receive around 300 samples for molecular diagnosis of myeloproliferative neoplasms and around 1300 samples for RT-PCR analysis (AML/CML/ALL). Apart from diagnosis we also perform quantitative real time (RQ-PCR) PCRs for monitoring of CML patients on treatment. Molecular diagnosis for various other rare haematological disorders and multiple researches in different streams of haematology are also carried out simultaneously in the laboratory. To meet this demand and to ensure a productive turn-around time, the department is well equipped facilities for both manual and automated nucleic acid extractions and has around 10 conventional and real time PCR machines, multiple horizontal and vertical electrophoresis units, centrifuges and sample storage units. One four capillary (ABI 3130) and one eight capillary (ABI 3500) electrophoresis are available for Sanger sequencing and gene scan/gene dosage analysis. Variant II for HPLC analysis, BIORAD Gel-Doc and Flourchem HD2 for agarose gel imaging and chemiluminescent imaging (protein samples) respectively and a separate unit for next generation sequencing are also available for both diagnosis and research.

The quality of the services offered by the laboratory is further strengthened by regular participation in International quality control programmes (RCPA). We also conduct a national quality control programme (CMC-EQAS) for molecular laboratories in India. Apart from this, we also offer training in the field of molecular diagnostics for post graduate students from different streams like pathology, transfusion medicine and conduct basic sessions on nucleic acid extraction and PCRs for undergraduate students.