Page 35 - INSTITUTE FOR MEDICAL RESEARCH ANNUAL REPORT 2020

IMR Annual Report 2020 19

Leukaemia Translocation Tests

Leukaemia Translocation Tests are performed using a real-time multiplex RT-qPCR based assay
for detection of leukaemia-associated fusion gene transcripts in total RNA from bone marrow or
whole blood samples. It is a qualitative test for the simultaneous detection of 30 characteristic
fusion genes of acute leukaemia. Knowing the mutation in leukaemia is important for risk
assessment and prognostication as well as molecularly-based treatment decisions.

Chimerism Test (CaRC) Cancer Research Centre

This test is performed to determine the percentage of blood or marrow cells post-allogenic
transplant that are produced from donor hematopoietic stem cells and the percentage that are
produced from host (recipient) hematopoietic stem cells using Real-time quantitative PCR (RT-
PCR). This is currently a gold standard for post-transplant monitoring.

Haemophilia B Genotyping

This test is useful for molecular confirmation of a clinical diagnosis of Haemophilia B in affected
male patients and also to determine Haemophilia B carrier status for female patients with a positive
family history. Identification of the causative alteration in the F9 gene is useful for confirmation of
diagnosis, prognostication on clinical severity and risk of inhibitor development and also genetic
counselling purposes.

Array-Based Comparative Genomic Hybridisation (aCGH)

Array comparative genomic hybridisation (aCGH) is a molecular cytogenetic technique for the
detection of chromosomal copy number changes on a genome-wide and high-resolution scale.
This will have major implications for diagnostic routines and treatment methods for patients with
developmental delay, failure to thrive, dysmorphic features, multiple congenital abnormalities,
short stature, seizure disorder, and/or autism spectrum disorder. The method opens up the
potential for the discovery of the functions and roles of unknown genes, which may allow specific
treatment for individuals. A total of 69 cases were received in 2020.

Oral Pathology (Diagnostic Histopathology)

Stomatology Unit provides diagnostic services for oral pathology specimens consisting of oral
cancer, jaw tumours, odontogenic cysts and other oral diseases. The diagnostic services for
2019 and 2020 were provided by four oral pathology and oral medicine specialists; two from the
Stomatology Unit, one from the Biobank Unit and a visiting specialist from Kuala Lumpur (daily).