Myeloid NGS Panel

Diagnostic Use

This Next Generation Sequencing (NGS) panel targets 80 of the most commonly mutated genes/hotspot regions relevant to 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 used to aid diagnosis, prognostication, disease progression, therapeutic intervention and patient management in haematological malignancies. Please note that this panel contains some genes known to be associated with germline predisposition to haematological neoplasm or other disorders. Consent should be acquired prior to requesting the test and is the responsibility of the requestor.

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

This panel covers full or partial coding regions of the genes below (Genome build: GRCh38).

Test Method

The test uses amplicon-based NGS/MPS technology on an Illumina NextSeq1000 instrument to target 80 genes/hotspot regions commonly mutated in haematological malignancies. The custom-designed panel includes ~146 kb of genomic content, designed against the human GRCh38 reference genome.

This NGS platform can detect clinically significant single nucleotide variants (SNVs), deletions and insertion variants up to ~ 50 bp, although FLT3-ITD variants can be detected up to ~ 280 bp. Loss of heterozygosity, structural rearrangements, inversions, copy number changes and aneuploidy is not detected. While assay sensitivity is specific to each individual variant, the detection limit of this platform for targeted regions covered to 500x is approximately 4% variant allele frequency (VAF%). The exceptions are as follows: the most common ASXL1 variant (c.1934dup) has an LOD of approximately 5-10%, while the JAK2 p.Val617Phe; MYD88 p.L265P, and FLT3 p.D835 variants have an LOD of approximately 1%. Variants detected with a frequency below the LOD are not routinely reported.

Variants classified as oncogenic/likely oncogenic and or clinically significant/likely clinically significant are reported. Variants of uncertain clinical significance are not typically reported. Clinical significance of variants is based on current medical and scientific knowledge and may change with future findings.

NOTE: This method does not distinguish between germline and somatic variants. If a germline variant is suspected, follow-on testing of relevant germline tissue is recommended.

Non-Funded Test Cost

$908.32 (Exclusive of GST)

Billing Code

5340

Contact Information

Enquiry Form

Contact Information

Enquiry Form