Myeloid NGS Panel

Diagnostic Use

This Next Generation Sequencing (NGS) panel targets 54 of the most commonly mutated genes/hotspot regions associated with myeloid neoplasms, including: acute myeloid leukaemia (AML); myelodysplastic syndrome (MDS); myeloproliferative neoplasms (MPN); chronic myelogenous leukaemia (CML); chronic myelomonocytic leukaemia (CMML); and juvenile myelomonocytic leukaemia (JMML). This test can be utilised to aid diagnosis, prognostication, disease monitoring, therapeutic intervention and patient management in haematological malignancies.

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.

Department

Genetics - Molecular Oncology

Delphic Registration Code

MONC

Laboratory Handling

Phlebotomy

2x EDTA (Lavender) dedicated to Genetics (same sample can be used for FLT3/NPM1/CEBPA testing)

Registration

Send to MONC

Turnaround Time

21 days

Test Code

5340

Specimen Type

• Whole Blood
• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• RPMI (Bone Marrow)

Pre-testing Requirements

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

Additional Specimen Information

8 ml peripheral blood in EDTA. 1-3 ml of bone marrow in EDTA or RPMI (anticoagulant)
Send ambient to the laboratory

Aliquot Instructions

Reference Intervals

Genome build: NCBI37/hg19

Test Method

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.

Clinically significant variants are reported at an allele frequency of ~5% or higher (at 500x coverage or greater). 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. Please contact the laboratory for further information prior to sample collection.

Non-Funded Test Cost

$856.90 (Exclusive of GST)

Billing Code

5340

Contact Information

Enquiry Form

Contact Information

Enquiry Form