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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMONC
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 continuumThe 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.

Diagnostic Use / Indications

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.

 

External PriceContact Canterbury Health Laboratories on +64 3 364 0484 or email Labinfo.
  

Specimen Collection

 
Pre-Testing Requirements

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

Patient Specimen3-4ml EDTA peripheral blood or 1-3 mL bone marrow
Paediatric Specimen1-2ml EDTA blood or bone marrow
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Oncology
Contact Details Email Email
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Contact Phone Number03 364 0548
Turnaround Time21 days. For URGENT samples, please contact the laboratory.
Reference Interval

Regions covered by the Myeloid NGS Panel:

Uncertainty of Measurement

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). 

Additional Information

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.

 


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