Status: Recruiting
Diagnosis and Phenotype Characterisation Using Genomics in Patients With Inherited Bone Marrow Failure (IBMDx Study)
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.
Participants needed: 350
Trial details
Age: 3+Biological sex: AllType: ObservationalSponsor: Peter MacCallum Cancer Centre, AustraliaUpdated: Nov 7, 2024Locations: 1
Eligibility criteria
age ≥ 3 months [+2]
A clinicopathological diagnosis of an acquired bone marrow failure syndrome (inc... [+1]