Myeloid NDC Assay

1. Introduction

The Myeloid-NDC assay requires only 100ng of DNA to detect all the required genomic alterations.

Myeloid-NDC is a research use only assay intended for the integrated and qualitative detection of mutations, fusion genes/translocations and copy number variants from myeloid DNA samples.

The Myeloid-NDC assay has been designed as an integrated research tool covering most genomic alterations recommended for the genomic characterisation of acute myeloid leukaemias (AML), myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN)^1-4. The Myeloid-NDC analysis application provides a simple solution to allow laboratories to perform integrated genomic research according to the newest guidelines and recommendations. The assay covers most genomic alterations recommended for the classification of acute myeloid leukaemias (ICC, WHO and ELN), myelodysplastic syndromes (IPSS-M, ICC, WHO) and myeloproliferative neoplasms (ICC, WHO).

Referneces

1.

Arber DA, Orazi A, Hasserjian RP, Borowitz MJ, Calvo KR, Kvasnicka HM, et al. International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data. Blood. 2022 Sep 15;140(11):1200-1228. doi: 10.1182/blood.2022015850. PMID: 35767897; PMCID: PMC9479031.

2.

Döhner H, Wei AH, Appelbaum FR, Craddock C, DiNardo CD, Dombret H, et al. Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood. 2022 Sep 22;140(12):1345-1377. doi: 10.1182/blood.2022016867. PMID: 35797463.

3.

Bernard E, Tuechler H, Greenberg PL, Hasserjian RP, Arango Ossa JE, Nannya Y, et al. Molecular International Prognostic Scoring System for myelodysplastic syndromes. NEJM Evid. 2022 doi: 10.1056/EVIDoa2200008.

4.

Gerds AT, Gotlib J, Ali H, Bose P, Dunbar A, Elshoury A, et al. Myeloproliferative Neoplasms, Version 3.2022, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2022 Sep;20(9):1033-1062. doi: 10.6004/jnccn.2022.0046. PMID: 36075392.

2. Scope

Myeloid-NDC Assay Composition

Gene Name	Region Covered
ABL1	Exons 1-10
ANKRD26	Exon 1
ARAF	Exons 4, 7, 10, 15
ASXL1	All coding
ASXL2	Exons 9-12, 13 (partial)
ATG2B	Exon 1
ATRX	Exons 5-35
BCOR	All coding
BCORL1	Exons 4-14
BRAF	Exons 11, 12, 15
CALR	Exons 8, 9
CBL	Exons 4-9
CBLB	Exons 8-17
CCND2	All coding
CCND3	Exon 5
CDKN1B	All coding
CDKN2A	All coding
CDKN2B	All coding
CEBPA	All coding
CHEK2	Exons 2-14
CREBBP	All coding
CSF3R	Exons 14-17
CSNK1A1	All coding
CTCF	Exons 3 (partial), 4-8
CTNNA1	Exons 6-17
CUX1	Exons 3-23
DDX41	All coding
DHX15	Exons 2-5
DIS3	All coding
DNMT3A	Exons 4, 7-23
EP300	All coding
ERBB3	Exons 3-8, 15, 22-24
ETNK1	Exon 3
ETV6	All coding
EZH2	All coding
FBXW7	All coding
FLT3	Exons 11, 13-15, 16, 20
GATA1	All coding
GATA2	All coding
GATA3	Exon 6
GNAS	All coding
GNB1	Exons 5-6
HRAS	Exons 2-4
IDH1	Exon 4
IDH2	Exon 4
IKZF1	All coding
JAK2	Exons 8-19
JAK3	Exons 11-16, 21, 22
KDM6A	All coding
KDR	Exons 11, 12, 23
KIT	Exons 8-11, 13, 17-18
KMT2A	Exons 6-26, 27 (partial)
KMT2C	Exons 1-21
KMT2E	All coding
KRAS	Exons 2-4
MAP2K1	Exons 2-3
MAP3K1	Exons 14 (partial), 15-20
MAPK1	Exons 4, 7
MBD4	All coding
MGA	Exons 3, 9, 18
MPL	Exons 10-12
MST1	Exons 7-14
MYC	Exon 2
NF1	Exons 1-55
NFE2	All coding
NPM1	Exons 4-7, 10, 11
NRAS	Exons 2-4
NSD1	All coding
NUP98	Exons 4-22
PHF6	All coding
PIK3CA	Exons 10, 21
PIK3CD	Exons 9-11
PML	Exon 6
PPM1D	Exon 6
PTPN11	Exons 3, 8, 12-13
RAD21	All coding
RB1	All coding
RIT1	Exon 5
RUNX1	Exons 4-9
RUNX1T1	All coding
SAMD9	Exon 3
SAMD9L	Exon 5
SETBP1	Exon 4
SF3B1	Exons 13-18
SH2B3	Exons 2 (partial), 3-8
SMC1A	All coding
SMC3	Exons 3-25
SRP72	Exons 6, 10
SRSF2	Exon 1
STAG2	Exons 5-35
STAT5B	Exons 14-16
TERC	Exon 1
TERT	All coding and promoter
TET2	All coding
TP53	Exons 2-10
U2AF1	Exons 2, 6
UBA1	Exon 3
WT1	Exons 1-9
ZBTB7A	Exon 2
ZRSR2	Exons 2-11

3. Output

Expected metrics

The table below shows the approximate expected metrics of the Myeloid-NDC assay based on 16 samples per hybridisation reaction (plus controls) and run on a NextSeq500/550 (Mid-Output 150 cycles cartridge) at 2 x 75bp. These can vary depending on DNA quality and quantity, technical factors in each laboratory, differences in equipment, performance of libraries, etc.

Parameter	Expected value
Library yield (ng)	3,000 (range: 1,000-6,000)
Library average fragment size (bp)	330 (range: 275-450)
Average on/near target bases (%)	80% (range: 70%-85%)
Duplicate reads (%)	25% (range: 15%-35%)
Mean target unique coverage (reads)	1,000x (range: 500x-1,500x)

The following table represents the observed analytical performance for the Myeloid-NDC assay:

	Analytical Sensitivity	Analytical Specificity	Limit of Detection
SV	>95%	>99%	5%
VAR	>99%	>99%	4%
CNV*	>95%	>97%	40% (clonal cells)

SV: structural variants, VAR: sequence variants, CNV: copy number variants. *The threshold baseline fold-change for deletions detected by Myeloid-NDC is 0.8 and 1.3 for losses and gains, and 0.7 and 2.0 for deletions and amplifications, respectively.

4. Resources

Myeloid-NDC resources

Myeloid-NDC Assay Quick Reference Guide

Release: r02, October 2026

This quick reference document is intended to guide the users through the instructions of use for the Myeloid-NDC assay and associated laboratory procedures.

Download (PDF: 10.24 MB)

Myeloid-NDC Assay Analysis Guide

Release: r02, October 2026

This document is intended to guide the users through the analysis of the results generated by the Myeloid-NDC assay and associated bioinformatics analysis application.

Download (PDF: 11.73 MB)