This project seeks to perform whole genome sequence (WGS) and whole transcriptome sequence (WTS) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (IBMFS-RD) in order to increase the genomic diagnostic rate in IBMFS.
age ≥ 3 months
able to give informed consent (or parent/guardian able to give informed consent)
a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (IBMFS-RD) as per the study team
A clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team
Existing definitive genomic diagnosis for patient's haematological phenotype
Peter MacCallum Cancer Centre, Australia
Lead sponsor
National Health and Medical Research Council, Australia
Collaborator
University of Melbourne
Collaborator