Contact molecular haematology lab for all other sample types.
Specimens arriving with incomplete labelling/documentation or incorrect sample requirements will be rejected.
From receipt of specimen or request (whichever is later).
DNA is analysed by targeted next generation sequencing of the genes listed below. Library preparation, pooling, sequencing and analysis occur on an Ion Torrent Genexus Integrated Sequencer 6.8.2.0.
The detection limit of this assay is a variant allele frequency (VAF) of 3% with the exception of the JAK2 p.(Val617Phe) variant which has a detection limit of ~1% and the ASXL1 p.(Gly646Trpfs*12) which has a detection limit of 8-10%. Less common insertion and deletion variants in homopolymer regions at a VAF of <20% may not be reliably detected. Copy-number aberrations (CNA), structural variants and large insertions and deletions are not detected by this assay.
This assay cannot distinguish between somatic and germline variants. If a germline origin is suspected, additional testing of appropriate germline tissue and genetic counselling should be considered.
The Myeloproliferative Neoplasm (MPN) Gene Panel is a next-generation sequencing assay designed for somatic mutation profiling in patients with a suspected or confirmed classical myeloproliferative neoplasm (MPN), including essential thrombocythaemia (ET), polycythaemia vera (PV), and primary myelofibrosis (PMF). This panel provides a comprehensive, single, rapid turn-around test to support the diagnosis, prognosis and management of patients at diagnosis and/or disease progression. Genes and targeted regions included in the Myeloproliferative Neoplasm (MPN) Gene Panel are listed in the table below. For patients with other suspected or confirmed myeloid neoplasms, the full Myeloid Gene Panel is recommended.
Please note that this panel contains some genes known to be associated with germline predisposition to haematological disorders. Appropriate consent should be obtained prior to requesting the test and is the responsibility of the requestor.
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| Gene List |
To contact the Molecular Haematology team please call:
| Auckland City Hospital | (09) 307 4949 |
| Lablink | ext 22000 |
| Prof. Peter Browett (Haematologist) | ext 9090-86281 |
| Dr. Imogen Caldwell (Haematologist) | ext 22006 |
| Nikhil Ghallayan (Section Leader) | ext 22005 |
| Molecular Haematology Office | ext 22005 |
Please note that requests for the Myeloproliferative Neoplasm (MPN) Gene Panel will only be accepted from specialist haematologists. Request from other doctors will not be accepted unless endorsed by a haematologist (full haematologist name must be provided with the referral).
Specimens should be clearly labelled with at least 2 points of identification.
Specimens can be transported at room temperature in the range of 8 degrees Celsius to 24 degrees Celsius.
Specimens should be shipped within 24 hours of collection.