Page 37 - IMR Annual Report 2022: Institute for Medical Research
P. 37

Annual
                                                                        IMR
                                                                       Report2022                      21
                                                                               INSTITUTE FOR MEDICAL RESEARCH








                                                                                  Chimerism
                                                                                   Workshop
                                                                                 With Gendx at
                                                                               Haematology Unit







            Haemato-oncology Laboratory Tests in 2022

                                                                                         2022
                        Type of test                    Test performed
                                                                                   Samples     Test
              Leukemia Translocation Study       Leukemia 30 Fusion Gene             817      31,336
                                                 BCR-ABL1                            194       2,522
                                                 PML-RARA                             46        506

              AML Mutation Study                 FLT3-ITD                            404       2,424
                                                 FLT3-D835                           404       2,424
                                                 NPM1                                291       3,942
                                                 CEBPA                               122       2,806
                                                 c-KIT                                51        306

              BCR-ABL1 Kinase Domain Mutation Analysis
              Leukemia 30 Fusion Gene            Leukemia 30 Fusion Gene              67       3,507
              Chimerism study
              Leukemia 30 Fusion Gene            Leukemia 30 Fusion Gene             523       8,322


                Molecular Genetic Haematology Laboratory Tests


               The  Molecular  Genetic  Haematology  Laboratory  offers  DNA  analysis  test  for
               thalassemia syndromes and haemoglobinopathies. These includes common
               and variant mutations in both alpha and beta thalassemia.



                Molecular Thalassemia



               Molecular   thalassaemia  tests  offered  for  the  diagnosis  of  thalassaemia  are
               the     amplification refractory mutation system (ARMS),    GAP, and ARMS variant
               for  haemoglobin  E  (HbE)  thalassaemia.  The  laboratory  also  offers  additional        Centre (CaRC)  Cancer Research
               panels for thalassaemia detection including:

               •     ARMS
               •     GAP
               •     and    Multiplex Ligation-dependent Probe Amplification (MLPA)
               •    -,   - and    -sequencing
               •  A few modifiers i.e., XMN-1 polymorphism and triplication alpha
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