Myeloid NGS Panel (Bone Marrow)

Testing Laboratory

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

LMH

Test Code (Numeric Code)

4723

Laboratory Handling

Sample Stability

Specimens can be transported at room temperature in the range of >8 degrees Celsius to 24 degrees Celsius within 24 hours of collection.

Associated Tests

• Myeloid NGS Panel (Blood)

Synonyms

AML NGS Panel,
AML,
MDS,
MPN

Turnaround Time

2 weeks

TAT for AML samples - 1 week

Specimen Type

• Bone Marrow

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

2

Additional Specimen Information

All specimens should be treated as urgent, registered for LMH and moved immediately to Molecular Haematology holding box upon receipt.
Please note that requests for the Myeloid NGS 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.
Contact molecular haematology lab for all other sample types.
Specimens arriving with incomplete labelling/documentation or incorrect sample requirements will be rejected.

Test Method

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.

Resources

• Gene List (66 KB)

Contact Information