Clinical background:
Next generation sequencing is employed to look for variants in a range of genes all at the same time. These tests are requested by a consultant or specialist registrar in haematology or histopathology. These genomic changes can help in the diagnosis and prognosis of haematological malignancies. Analysis can be performed on tissue or liquid samples.
Specimen container paediatric:
EDTA for liquid samples and FFPE for tissue biopsies
Specimen container adult:
EDTA for liquid samples and FFPE for tissue biopsies
Minimum volume paediatric:
3ml
Minimum volume adult:
3ml
Special requirements:
Please complete NEHODS request form
Sample stability:
N/A
Transport requirements:
Samples should be sent to laboratory immediately.
Freq analysis:
Daily
Add on test:
Can be added to any genetics sample where DNA has been stored
Quality assurance:
UK NEQASLI
Interpretation:
By genetics clinical scientist
Reference ranges:
N/A
Factors affecting result:
Quality and size of sample
Referenced documents:
N/A
Other info:
Panels exist for myeloproliferative neoplasms, myeloid diseases, lymphoid diseases and histiocytosis. The MPN panel includes JAK2 (exons 12 and 14 (which includes V617F)), MPL exon 10 (including the major hotspots at S505 and W515), CALR exon 9 (including the 52bp deletion (type 1) and 5bp insertion (type 2) hotspots) and CSF3R exon 14 (which includes the T618I hotspot seen in CNL).
The myeloid panel includes ANKRD26, FBXW7, KRAS, SETBP1, ASXL1, FLT3, MPL, SF3B1, BCOR, GATA1, NF1, SH2B3, CALR, GATA2, NFE2, SRSF2, CBL, GNB1, NOTCH1, STAG2, CEBPA, HRAS, NPM1, STAT3, CSF3R, IDH1, NRAS, STAT5B, CUX1, IDH2, PHF6, TET2, DDX41, IKZF1, PPM1D, TP53, DNMT3A, JAK2, PTEN, U2AF1, ETNK1, KIT, PTPN11, UBA1, ETV6, KMTA2-PTD, RAD21, WT1, EZH2, KMT2C, RUNX1, ZRSR2. The lymphoid panel includes ARID1A, CDKN1B, KLF2, RPS15, ATM, CREBBP, MAP2K1, SF3B1, BCL2, CXCR4, MEF2B, STAT3, BIRC3, DNMT3A, MYD88, STAT5B, BRAF, EP300, NOTCH1, TCF3, BTK, EZH2, NOTCH2, TET2, CARD11, FOXO1, PLCG2, TNFAIP3, CCND3, ID3, POT1, TP53, CD79B, IDH2, RHOA. The histiocytosis panel includes BRAF, ARAF, ERBB3, MAP2K1, MAP3K1, HRAS, KRAS, NRAS, PIK3CA, PIK3CD.