Myeloid panel analysis

Testing strategy

Analysis of a panel of genes in individuals with a diagnosis or suspected diagnosis of myeloid disorder.

Key indications include:

• Acute myeloid leukaemia
  
• Myelodysplasia
  
• Myeloproliferative neoplasm

Analysis is intended to assist with differential diagnoses in these individuals and to identify prognostic markers and potential drug targets. This analysis may reveal molecular markers which can be monitored during the course of a patient's treatment.

This analysis may reveal inherited genetic changes which would have implications for themselves and other family members. This must be communicated with patients when consenting for testing.

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for cancer and meet eligibility criteria:

National Genomic Test Directory (NHS England)

Genes tested

Whole genes analysed are listed below.

Gene / transcript:

• ABL1 / NM_005157, NM_007313
• ANKRD26 / NM_001256053, NM_014915 (inc 5’ UTR)
• ASXL1 / NM_015338
• ATRX / NM_000489
• BCOR / NM_001123383, NM_017745
• BCORL1 / NM_021946
• BRAF / NM_004333
• CBL / NM_005188
• CBLB / NM_170662
• CBLC / NM_012116
• CDKN2A / NM_001195132, NM_000077, NM_058195
• CEBPA / NM_004364
• CHEK2 / NM_001005735, NM_007194
• CSF3R / NM_156039
• CUX1 / NM_001202543, NM_181552
• DDX41 / NM_016222
• DNMT3A / NM_022552, NM_175629
• ETNK / NM_018638.5
• FBXW7 / NM_033632, NM_018315
• FLT3 / NM_004119
• GATA1 / NM_002049
• GATA2 / NM_032638, NM_001145661
• GNAS / NM_000516, NM_001077490
• HRAS / NM_005343, NM_001130442
• IDH2 / NM_002168
• IDH1 / NM_005896, NM_001282386, NM_001282387
• IKZF1 / NM_001220765, NM_006060
• JAK2 / NM_004972
• KDM6A / NM_021140
• KIT / NM_000222
• KRAS / NM_033360
• KMT2A / NM_001197104, NM_005933
• MPL / NM_005373
• NF1 / NM_000267
• NFE2 / NM_001136023, NM_001261461, NM_006163
• NOTCH1 / NM_017617
• NPM1 / NM_002520
• NRAS / NM_002524
• PDGFRA / NM_006206
• PHF6 / NM_032458, NM_001015877
• PPM1D / NM_003620
• PTEN / NM_000314
• PTPN11 / NM_002834
• RAD21 / NM_006265
• RHOA / NM_001664.4, NM_001313941.2
• RUNX1 / NM_001754
• SETBP1 / NM_015559
• SETD2 / NM_014159
• SF3B1 / NM_012433
• SH2B3 / NM_005475
• SMC1A / NM_006306
• SMC3 / NM_005445
• SRSF2 / NM_001195427, NM_003016
• STAG1 / NM_005862
• STAG2 / NM_001042749, NM_006603, NM_001282418
• STAT5B / NM_012448
• TET2 / NM_001127208
• THPO / NM_000460.4, NM_001289998.1, NM_001290028.1
• TP53 / NM_000546, NM_001126112
• U2AF1 / NM_001025203
• UBA1 / NM_003334.4, NM_153280.3
• WT1 / NM_024426
• ZRSR2 / NM_005089
  

Some hotspot regions are also covered.

Gene Exons / Transcript:

• BRCC3 4,5,6,10 / NM_024332
• CALR 8,9 / NM_004343
• JAK3 11,13,15 / NM_000215
• MYD88 5 / NM_001172567
• SETDB1 11,16 / NM_001145415
• STAT3 20,21 / NM_139276

This panel has been validated to detect variants down to a level of 5 percent.

Target reporting times

21 calendar days for routine referrals

Sample requirements and referral information

Please see referral form for referral information required

Samples required are bone marrow aspirate or peripheral blood in EDTA anticoagulant.

If a liquid sample cannot be obtained then analysis may be possible on DNA extracted from a paraffin embedded sample. Please contact us to discuss.

Reports are available to registered users - NHS networked (N3) computer only

Requesting specialty

Clinical Haematology

Contact details

Myeloid Panel enquiries: oxford.molecularhaem@nhs.net

Price list for non NHSE referrals

Price list for rare disease services (pdf)