Myeloid NGS Panel

Test Identifier Information

The test utilises TruSight amplicon-based NGS/MPS technology on an Illumina MiSeq instrument to target 54 genes/hotspot regions commonly mutated in the MDS-AML continuum. The panel focuses on ~141 kb of genomic content, consisting of 568 amplicons of ~250 bp in length designed against the human NCBI37/hg19 reference genome.

This Next Generation Sequencing (NGS) panel targets 54 of the most commonly mutated genes/hotspot regions associated with myeloid neoplasms, such as: acute myeloid leukaemia (AML); myelodysplastic syndrome (MDS); myeloproliferative neoplasms (MPN); chronic myelogenous leukaemia (CML); chronic myelomonocytic leukaemia (CMML); and juvenile myelomonocytic leukaemia (JMML). 

The panel content was designed by a consortium of recognized experts in blood cancer disorders. Targeted genes include those involved in the MDS-AML continuum as cited by professional organizations including the National Comprehensive Cancer Network (NCCN) and the European Society for Medical Oncology (ESMO), providing a comprehensive picture of the disease and its progression.

Specimen Collection

Please provide relevant clinical details on the request form and include pathology results (eg: Bone marrow report).

CHLabs Laboratory

Regions covered by the Myeloid NGS Panel:

Clinically significant variants are reported at an allele frequency of ~5% or higher (at >500x coverage). The JAK2 V617F variant can be detected down to ~1%.

This NGS panel detects single nucleotide variants (SNVs), small deletions, insertions and duplications of up to ~50bp.

FLT3 ITDs and CEBPA variants are usually too large to be detected by the Myeloid NGS panel and need to be performed by our standard method (Fragment analysis & Sanger sequencing). 

NOTE: This method does not distinguish between germline and somatic variants. If a germline variant is suspected, testing of the variant on a buccal swab or skin biopsy sample is recommended.