NXtec D006-A1 Multiple Myeloma is a research use only (RUO) assay for the detection of deletions, gains or amplifications of genes and chromosomal regions mentioned in Table 2 of the product description that are recurrently altered in multiple myeloma, such as 1p, 1q, 13q and 17p, as well as for the detection of BRAF p.V600E point mutation.

Multiple myeloma (MM) is a clonal B-cell disorder characterised by malignant proliferation of monoclonal plasma cells. MM cases present with a common histological and morphological diagnosis, however simultaneously displaying enormous genetic and molecular complexity as well as marked variations in clinical characteristics and patient survival. Recent progress in molecular cytogenetics has improved the understanding of pathogenesis of MM and also provided reasoning for molecular sub-classification of MM. Genetic alterations in MM are well characterised and include gross chromosomal rearrangements such as fusion genes, hyper-/hypodiploidy and also focal deletions. This probemix is designed to detect the majority of the primary and secondary CNAs in MM.

The image below shows key target genes and regions for this probemix. Click the image to enlarge.

Use the calculator below to get an indication of the number of samples that can be included in a sequencing run. Click here if you are having issues loading or using the calculator, or if you would like more information about the calculation.

Tumour tissues exhibit significant heterogeneity, characterised by varying tumour cell percentages (presence of non-tumour cells) and often subclonal cell expansions as a result of cancer evolution. When extracting DNA from a tumour tissue sample, this includes some DNA from non-tumour cells and genetic information from possible different (sub)clones of the tumour.

digitalMLPA analysis on tumour samples provides information on the average situation in the cells from which the DNA sample was purified. However, if the percentage of tumour cells is low, gains or losses of genomic regions or genes may not be detected. In addition, the subclonality of the aberration affects the inter ratio of the corresponding probe.

In case of a deletion that is present in a lower percentage of tumour cells and/or subclonal, the inter ratio may be higher than expected. For example, a monoallelic deletion in a sample with 60% tumour cell content (or a monoallelic deletion present in 60% of the tumour cells) will result in an inter ratio around 0.70. However, the same inter ratio of 0.70 will also be found in a sample with a biallelic deletion and a tumour cell percentage of 30% (or a subclone comprising 30% of all tumour cells) (this example can be found in bold in Table 1). The digitalMLPA technique cannot discriminate between these two scenarios.

Theoretical inter ratios obtained with digitalMLPA with a specific percentage of cells carrying the aberration can be found below. Estimating the percentage of cells carrying the aberration (tumour cell percentage and/or possible subclonality) could help facilitate the interpretation. As can be appreciated in this table, certain inter ratios can be interpreted in various ways, depending on the tumour cell percentage and/or subclonality.

Table 1: Theoretical expected median inter ratios for aberrations present at different percentages.

As a real-life example of the results of digitalMLPA experiments with different percentages of cells carrying the aberration, DNA from a set of eight Coriell samples and tumour cell lines was diluted with different percentages of "healthy" DNA (without detectable CNAs with NXtec D006 Multiple Myeloma). A table with inter ratios observed in this sample set for a specific percentage of cells carrying the deviation (CNA) can be found below.

Table 2: Median inter ratios observed for aberrations present at different percentages when tested with NXtec D006 Multiple Myeloma version A1. Please carefully take the variation of the inter ratios within your experiment into account.

* Inter ratios for amplifications (gain of >2 copies) are expected to follow the same trend, with lower values when less cells carry the aberration).

As can be observed in the table above, with lower percentages of cells carrying the aberration, inter ratios of samples with CNAs overlap with the expected normal range of inter ratios (0.85–1.15). We conclude the following: the minimum percentage of tumour cells required for reliable analysis is 30%, which is in line with previously published data (Al Zaabi et al. 2010, Coll-Mulet et al. 2008, Benard-Slagter et al. 2017). We recommend using tumour samples with at least 50% tumour cell content to minimize the variation in tumour cell estimation, and to allow robust data-analysis and detection of potential subclonal aberrations.

NXtec D006 Multiple Myeloma is for research use only (RUO) in all territories.

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below can be used with the current (A1) version of this product.

Single probe findings are not listed; only CNAs detected by two or more consecutive probes are mentioned.

Chromosome 1

• Coriell NA00214 (m): Heterozygous deletion affecting the probes for KCNT2 and DENND1B.
• Coriell NA00803 (m): Heterozygous deletion affecting the probes for FCRL5, SLAMF7, NUF2, PBX1-area and PBX1.
• Coriell NA22977 (f): Heterozygous deletion affecting the probes for TMEM240 and CFAP74.

Chromosome 2

• Coriell NA10401 (f): Trisomy of chromosome 2 affecting the probes for TMEM18, COLEC11, SPAST, VIT, PEX13, REEP1, CNNM3, NPAS2, SCN1A, ABCB11, COL3A1, CAPN10 and KIF1A.

Chromosome 3

• Coriell NA03563 (m): Heterozygous duplication affecting the probes for CLSTN2, ATR, SLC9A9, OPA1, ACAP2 and RUBCN.
• Coriell NA04127 (f): Heterozygous duplication affecting the probes for TRNT1, CRBN, SUMF1, NR1D2 and NEK10.
• Coriell NA10175 (m): Heterozygous duplication affecting the probes for OPA1, ACAP2 and RUBCN.
• Coriell NA11428 (f):
  • Heterozygous deletion affecting the probes for TRNT1, CRBN and SUMF1.
  • Heterozygous duplication affecting the probes for CLSTN2, ATR, SLC9A9, OPA1, ACAP2 and RUBCN.

Chromosome 4

• Coriell NA00782 (m): Heterozygous duplication affecting the probes for TECRL, UGT2A1, G3BP2, HADH, INPP4B and ZNF827.
• Coriell NA10947 (f): Heterozygous duplication affecting the probes for FGFR3, LETM1, NSD2, ADD1, LDB2, KCNIP4, SEL1L3, PCDH7 and ATP8A1.
• Coriell NA14489 (f):
  • Heterozygous deletion affecting the probes for FGFR3, LETM1, NSD2 and ADD1.
  • Heterozygous duplication affecting the probes for LDB2, KCNIP4, SEL1L3 and PCDH7.

Chromosome 5

• Coriell NA04371 (m): Heterozygous duplication affecting the probes for COL23A1 and MAPK9.
• Coriell NA14230 (m): Heterozygous deletion affecting the probes for SNCAIP, MARCHF3 and SLC22A5.

Chromosome 6

• Coriell NA06801 (f): Heterozygous duplication affecting the probes for IRF4, GMDS-DT, SERPINB6, PXDC1 and ECI2.
• Coriell NA06802 (m): Heterozygous deletion affecting the probes for TFB1M, WTAP, IGF2R, PRKN, SMOC2 and ERMARD.
• Coriell NA21698 (m): Heterozygous deletion affecting the probes for SMOC2 and ERMARD.

Chromosome 7

• Coriell NA07081 (m): Heterozygous duplication affecting the probes for SDK1, RADIL, RAPGEF5, STK31, ADCY1, ABCA13, IKZF1 and LANCL2.
• Coriell NA10925 (m): Heterozygous deletion affecting the probes for ADCY1, ABCA13 and IKZF1.

Chromosome 10

• Coriell NA03047 (m): Heterozygous deletion affecting the probes for ECHDC3, NMT2 and ITGA8.

Chromosome 11

• Coriell NA15099 (m): Heterozygous duplication affecting the probes for MTMR2, BIRC3, BIRC2, ATM, NTM, JAM3 and NCAPD3.

Chromosome 12

• Coriell NA07981 (m): Heterozygous triplication/homozygous duplication affecting the probes for WNK1, CACNA2D4, TSPAN9, LTBR, CD27, VAMP1, NCAPD2, CHD4, ETV6, BCL2L14, LRP6, BORCS5, CDKN1B, GPRC5D, AEBP2, REP15, MANSC4, PTHLH and TMTC1.

Chromosome 13

• Coriell NA08254 (m): Heterozygous deletion affecting the probes for ARHGEF7 and GRK1.
• Coriell NA13721 (m): Heterozygous deletion affecting the probes for ENOX1, RB1, RCBTB2, DLEU2, KCNRG, MIR15A, DLEU1, DLEU7, RNASEH2B, ATP7B, VPS36, PCDH8, KLHL1 and DIS3.

Chromosome 14

• Coriell NA13410 (m): Heterozygous duplication affecting the probes for DYNC1H1, TRAF3, COA8, MTA1, TEDC1, IGHD and IGHM.

Chromosome 15

• Coriell NA03184 (m): Trisomy of chromosome 15 affecting the probes for GABRB3, SPG11, FBN1, VPS13C, USP3, CLN6, IGF1R, CHSY1 and TM2D3.
• Coriell NA20375 (m): Heterozygous deletion affecting the probes for GABRB3.

Chromosome 16

• Coriell NA06226 (m): Heterozygous duplication affecting the probes for DECR2, IFT140, TXNDC11, TNFRSF17 and CPPED1.
• Coriell NA09687 (m): Heterozygous duplication affecting the probes for WWOX, MAF, ANKRD11 and GAS8.
• Coriell NA12074 (m): Heterozygous deletion affecting the probes for SLC12A4 and DUS2.

Chromosome 17

• Coriell NA09209 (m): Heterozygous deletion affecting the probes for VPS53 and NXN.
• Coriell NA16445 (m): Heterozygous duplication affecting the probes for CCDC57 and CSNK1D.

Chromosome 18

• Coriell NA01359 (m): Trisomy of chromosome 18 affecting the probes for LPIN2, TGIF1, GNAL, SPIRE1, RNMT, NPC1, LOXHD1, LIPG, CTDP1 and TXNL4A.

Chromosome 21

• Coriell NA09868 (f): Heterozygous deletion affecting the probes for PSMG1, PDE9A, PWP2 and TSPEAR.

Chromosome 22

• Coriell NA07106 (m): Heterozygous duplication affecting the probes for GAB4, CECR2, HIRA, SMARCB1, NF2, ZMAT5, SFI1, LARGE, EP300, TRMU and BRD1.

Chromosome X

• Coriell NA04626 (f): Trisomy of chromosome X affecting the probes for ANOS1, ACOT9, KDM6A, FGD1, ARHGEF9, ZDHHC15, NXF3, CLIC2 and TMLHE.

Various

• Coriell NA02819 (f):
  • Heterozygous duplication affecting the probes for DOCK8, JAK2, GLDC, FREM1 and BNC2 on chromosome 9p.
  • Heterozygous deletion affecting the probes for GALNT9 and PGAM5 on chromosome 12q.
• Coriell NA02944 (m):
  • Heterozygous duplication affecting the probes for RBCK1, RSPO4, TGM6, TRMT6, PLCB4, RIN2 and APMAP on chromosome 20p.
  • Heterozygous deletion affecting the probes for GAB4, CECR2 and HIRA on chromosome 22q.
• Coriell NA05067 (m):
  • Heterozygous duplication affecting the probes for DOCK8, JAK2, GLDC, FREM1, BNC2, FBXO10 and DCAF10 on chromosome 9p.
  • Heterozygous deletion affecting the probes for IGHD and IGHM on chromosome 14q.
• Coriell NA07891 (m):
  • Heterozygous duplication affecting the probes for GALNT9 and PGAM5 on chromosome 12q.
  • Heterozygous deletion affecting the probes for LIPG, CTDP1 and TXNL4A on chromosome 18q.
• Coriell NA09596 (m):
  • Heterozygous deletion affecting the probes for MTMR2, BIRC3, BIRC2 and ATM on chromosome 11q.
  • Heterozygous deletion affecting the probes for IGHD and IGHM on chromosome 14q.
• Coriell NA10313 (m):
  • Heterozygous duplication affecting the probes for CLCN3, CYP4V2 and TRIML1 on chromosome 4q.
  • Heterozygous deletion affecting the probes for RBM33 and DYNC2I1 on chromosome 7q.
• Coriell NA10989 (m):
  • Heterozygous deletion affecting the probes for DOCK8, JAK2 and GLDC on chromosome 9p.
  • Heterozygous deletion affecting the probes for IGHD and IGHM on chromosome 14q.
• Coriell NA12721 (f):
  • Heterozygous duplication affecting the probes for IRF4, GMDS-DT, SERPINB6, PXDC1, ECI2 and JARID2 on chromosome 6p.
  • Heterozygous deletion affecting the probes for FBXO25 and CLN8 on chromosome 8p.
  • Heterozygous deletion affecting the probes for IGHD and IGHM on chromosome 14q.
• Coriell NA13685 (f):
  • Heterozygous duplication affecting the probes for COL5A1, TRAF2, GRIN1 and EHMT1 on chromosome 9q.
  • Heterozygous deletion affecting the probes for IGHD and IGHM on chromosome 14q.
• Coriell NA14131 (f):
  • Heterozygous deletion affecting the probes for IRX4, NSUN2, CTNND2 and DNAH5 on chromosome 5p.
  • Heterozygous deletion affecting the probes for IGHD and IGHM on chromosome 14q.
• DSMZ ACC-163 (NCI-H929) (f):
  • Deletion affecting the probes for EVI5, RPL5, DPYD, DBT, CDC14A, TENT5C and SPAG17 on chromosome 1p.
  • Gain affecting the probes for PDZK1, BCL9, ANP32E, RPRD2, MCL1, NUP210L, ADAR, CKS1B, FCRL5, SLAMF7, NUF2, RP11-541J2, RP11-480N10 and PBX1 on chromosome 1q.
  • Deletion affecting the probes for WTAP, IGF2R, PRKN, SMOC2 and ERMARD on chromosome 6q.
  • Deletion affecting the probes for SDK1 and RADIL on chromosome 7p.
  • Gain affecting the probes for FBXO25, CLN8, GATA4, GFRA2, TNFRSF10B, TNFRSF10A, NEFL, CDCA2, RBPMS, GSR, ZNF703, SNTG1, CHD7, RMDN1, CPNE3, RRM2B and MYC on chromosome 8.
  • Deletion affecting the probes for MARCHF8 and ARHGAP22 on chromosome 10q.
  • Gain affecting the probes for MTMR2, BIRC3, BIRC2, ATM, NTM, JAM3 and NCAPD3 on chromosome 11q.
  • Deletion affecting the probes for LTBR, CD27, VAMP1, NCAPD2, CHD4, ETV6, BCL2L14, LRP6, BORCS5, CDKN1B, GPRC5D, AEBP2, REP15, MANSC4 and PTHLH on chromosome 12p.
  • Deletion affecting the probes for KATNAL1, ENOX1, RB1, RCBTB2, DLEU2, KCNRG, MIR15A, DLEU1, DLEU7, RNASEH2B, ATP7B, VPS36, PCDH8, KLHL1, DIS3, ARHGEF7 and GRK1 on chromosome 13q.
  • Deletion affecting the probes for IGHD and IGHM on chromosome 14q.
  • Gain affecting the probes for LOXHD1, LIPG, CTDP1 and TXNL4A on chromosome 18q.
  • Gain affecting the probes for PLPP2, TEX45, GET3, GCDH and STX10 on chromosome 19p.
  • Deletion affecting the probes for DNAAF3 and SLC27A5 on chromosome 19q.
  • Deletion affecting the probes for RBCK1, RSPO4, TGM6, TRMT6, PLCB4, RIN2 and APMAP on chromosome 20p.
  • Gain affecting the probes for ACSS2, EDEM2, SAMHD1, MAFB, SLC13A3, STAU1, OSBPL2 and UCKL1 on chromosome 20q.
  • Deletion affecting the probes for ANOS1, ACOT9, KDM6A, FGD1, ARHGEF9, ZDHHC15 and NXF3 on chromosome X.
• DSMZ ACC-430 (SK-MM-2) (m):
  • Deletion affecting the probes for FAF1, CDKN2C, ORC1, PLPP3, DAB1 and LEPR on chromosome 1p.
  • Deletion affecting the probes for TBC1D32, LAMA2, TNFAIP3, TFB1M, WTAP, IGF2R, PRKN, SMOC2 and ERMARD on chromosome 6q.
  • Deletion affecting the probes for FBXO25, CLN8, GATA4, GFRA2, TNFRSF10B, TNFRSF10A, NEFL, CDCA2, RBPMS, GSR and ZNF703 on chromosome 8p.
  • Gain affecting the probes for SNTG1, CHD7, RMDN1, CPNE3, RRM2B, MYC and SLC39A4 on chromosome 8q.
  • Deletion affecting the probes for DOCK8, JAK2, GLDC, FREM1 and BNC2 on chromosome 9p.
  • Gain affecting the probes for CCND1, MTMR2, BIRC3, BIRC2, ATM, NTM, JAM3 and NCAPD3 on chromosome 11q.
  • Deletion affecting the probes for KATNAL1, ENOX1, RB1, RCBTB2, DLEU2, KCNRG, MIR15A, DLEU1, DLEU7, RNASEH2B, ATP7B, VPS36 and PCDH8, on chromosome 13q.
  • Deletion affecting the probes for IGHD and IGHM on chromosome 14q.
  • Deletion affecting the probes for GPT2, LONP2, CYLD, SLC12A3, SLC12A4, DUS2, WWOX, MAF, ANKRD11 and GAS8 on chromosome 16q.
  • Deletion affecting the probes for VPS53, NXN, TP53, PIK3R6 and USP43 on chromosome 17p.
  • Gain affecting the probes for LPIN2, TGIF1, GNAL, SPIRE1 and RNMT on chromosome 18p.
  • Gain affecting the probes for LOXHD1 and LIPG on chromosome 18q.
  • Deletion affecting the probes for CTDP1 and TXNL4A on chromosome 18q.
  • Deletion affecting the probes for CECR2, HIRA, SMARCB1, NF2, ZMAT5, SFI1 and LARGE on chromosome 22q.
  • Deletion affecting the probes for PCDH11Y, TBL1Y, USP9Y, KDM5D and RPS4Y2 on chromosome Y.
• DSMZ ACC-606 (KMS-12-PE) (f):
  • Deletion affecting the probes for FAF1, CDKN2C, EVI5, RPL5, DPYD, SLC22A15, TENT5C, and SPAG17 on chromosome 1p.
  • Gain affecting the probes for PDZK1, BCL9, ANP32E, RPRD2, MCL1, NUP210L, ADAR, CKS1B, FCRL5, SLAMF7, NUF2, RP11-541J2, RP11-480N10, PBX1, ADSS2 and DESI2 on chromosome 1q.
  • Deletion affecting the probes for KCNT2 and DENND1B on chromosome 1q.
  • Gain affecting the probes for OPA1, ACAP2 and RUBCN on chromosome 3q.
  • Deletion affecting the probes for INPP4B, ZNF827, NR3C2, CLCN3, CYP4V2 and TRIML1 on chromosome 4q.
  • Deletion affecting the probes for IL31RA, MIER3, CERT1, ADGRV1, SNCAIP, MARCHF3, SLC22A5, MYOT, GFRA3, CTNNA1, PCDHA1, PCDHAC1, PCDHAC2, PCDHB2, PCDHB10, SLC25A2, TAF7, PCDHGA11, SH3TC2, COL23A1 and MAPK9 on chromosome 5q.
  • Gain affecting the probes for IRF4 on chromosome 6p.
  • Gain affecting the probes for RAPGEF5, STK31, ADCY1, ABCA13, IKZF1, LANCL2, KCTD7, GALNT17, PNPLA8, IFRD1 and RBM33 on chromosome 7.
  • Gain affecting the probes for MYC and SLC39A4 on chromosome 8q.
  • Deletion affecting the probes for DOCK8, JAK2, GLDC, FREM1 and BNC2 on chromosome 9p.
  • Gain affecting the probes for TRPM3 and ALDOB on chromosome 9q.
  • Gain affecting the probes for DIP2C, PFKP, PITRM1, ECHDC3, NMT2 and ITGA8 on chromosome 10p.
  • Deletion affecting the probes for MARCHF8, ARHGAP22, KAT6B, ADD3, INPP5A and KNDC1 on chromosome 10q.
  • Gain affecting the probes for CCND1, MTMR2, BIRC3, BIRC2, ATM, NTM, JAM3 and NCAPD3 on chromosome 11q.
  • Gain affecting the probes for ARHGEF7 and GRK1 on chromosome 13q.
  • Deletion affecting the probes for KATNAL1, ENOX1, RB1, RCBTB2, DLEU2, KCNRG, MIR15A, DLEU1, DLEU7, RNASEH2B, ATP7B, VPS36, PCDH8, KLHL1 and DIS3 on chromosome 13q.
  • Gain affecting the probes for MTA1 and TEDC1 on chromosome 14q.
  • Deletion affecting the probes for CHD8, DDHD1, SAMD4A and IGHM on chromosome 14q.
  • Deletion affecting the probes for WWOX, MAF, ANKRD11 and GAS8 on chromosome 16q.
  • Deletion affecting the probes for VPS53, NXN, TP53, PIK3R6, USP43, RAI1 and MIR33B on chromosome 17p.
  • Gain affecting the probes for LPIN2, TGIF1, GNAL, SPIRE1 and RNMT on chromosome 18p.
  • Deletion affecting the probes for NPC1, LIPG, CTDP1 and TXNL4A on chromosome 18q.
  • Deletion affecting the probes for SLC7A9, ACP7, COQ8B, DNAAF3 and SLC27A5 on chromosome 19q.
  • Deletion affecting the probes for RBCK1, RSPO4, TGM6 and TRMT6 on chromosome 20p.
  • Deletion affecting the probes for GAB4, CECR2, HIRA, NF2, ZMAT5, SFI1, LARGE, EP300, TRMU and BRD1 on chromosome 22q.
  • Deletion affecting the probes for ANOS1, ACOT9, KDM6A, FGD1, ARHGEF9, ZDHHC15, NXF3, CLIC2 and TMLHE on chromosome X.

Key related products

• P425 Multiple Myeloma: Targets genes and regions associated with multiple myeloma: 1p32-p12, 1q21-q23, 5q31, chr. 9, 12p13, 13q14-q22 (RB1-DLEU2-DIS3), 14q32 (TRAF3), chr. 15, 16q12 (CYLD), 16q23 (WWOX), and 17p13 (TP53).
• P056 TP53: Targets each exon of TP53.
• P037 CLL-1: Targets various genes and regions associated with B-cell chronic lymphocytic leukemia (B-CLL).
• P038 CLL-2: Targets various genes and regions associated with B-cell chronic lymphocytic leukemia (B-CLL).
• P040 CLL: Targets various genes and regions associated with B-cell chronic lymphocytic leukemia (B-CLL).

Related MLPA probemixes that can be used for confirmation

The probemixes below can be used for confirmation because most of the target probes have different ligation sites than those in D006 Multiple Myeloma. Some probes may still have identical ligation sites; contact us for more information if required.

• P047 RB1: Contains probes for each exon of RB1, except exon 15.
• P041 ATM-1: Contains probes for each exon of ATM together with P042 ATM-2.
• P042 ATM-2: Contains probes for each exon of ATM together with P041 ATM-1.
• P088 Oligodendroglioma 1p-19q: Contains probes for 1p, 1q, 19p, and 19q.
• P380 Wilms' tumour: Contains probes for 1p, 1q, 16p, 16q, and TP53.
• P480 WHS & Achondroplasia: Contains probes for 4p16.3, including NSD2 and FGFR3.
• P244 AIP-MEN1-CDKN1B: Contains 6 probes for 12p, including CDKN1B.
• P202 IKZF1-ERG: Contains probes for each exon of IKZF1, 14q32.33, and more.
• P335 ALL-IKZF1: Contains probes for IKZF1, ETV6, RB1, and more.
• P037 CLL-1: Contains probes for 2p, 6q, 8p, 8q (MYC), 11q (ATM), chr. 12, 13q14 (RB1, DLEU2), TP53, and 17p (TP53).
• P038 CLL-2: Contains probes for 11q (ATM), chr. 12, 13q14 (RB1, DLEU1/2), TP53, 14q32.33, 17p (TP53), and chr. 19.
• P040 CLL: Contains probes for 11q (ATM), chr. 12, 13q14 (RB1, DLEU1/2), TP53, and 17p (TP53).
• P258 SMARCB1: Contains probes for each exon of SMARCB1, and flanking regions on 22q.
• P414 MDS: Contains probes for chr. 3, 5q, 7q, 8q, 11q, 12p (ETV6), chr. 17 (TP53), chr. 19, 20q, and chr. Y.
• P323 CDK4-HMGA2-MDM2: Contains probes for 12p and 12q.
• P051 Parkinson mix 1: Contains probes for each exon of PRKN together with P052 Parkinson mix 2.
• P052 Parkinson mix 2: Contains probes for each exon of PRKN together with P051 Parkinson mix 1.
• P064 Microdeletion Syndromes-1B: Contains 9 probes for NSD2, and more.
• P377 Hematologic Malignancies: Contains probes for IKZF1, MYC, ATM, ETV6, 13q14, TP53, and more.
• P078 Breast tumour: Contains probes for MYC, CCND1, and more.
• P343 Autism-1: Contains 26 probes for 15q.
• P298 BRAF-HRAS-KRAS-NRAS: Contains a mutation-specific probe for BRAF p.V600E, and more.
• P301 Medulloblastoma mix 1: Contains probes for chr. 6, 14q, chr. 16, and chr. 17.
• P302 Medulloblastoma mix 2: Contains probes for chr. 2, chr. 3, chr. 7, and chr. 9.
• P303 Medulloblastoma mix 3: Contains probes for chr. 1, 4q, 5q, chr. 8, chr. 10, and chr. 20.

Note that the reference probes included in most of these probemixes have not been optimised for MM samples. If the sample derived from MM harbours multiple copy number alterations on the genomic locations of the reference probes, the normalisation can be compromised and reliable result interpretation will not be possible with this probemix.

Related MLPA probemixes that cannot be used for confirmation

The probemixes below cannot be used for confirmation because most of the target probes have identical ligation sites as those in D006 Multiple Myeloma.

• P425 Multiple Myeloma: Contains probes for 1p, 1q, 5q31, chr. 9, 12p13, 13q14-q22, TRAF3, chr. 15, CYLD, WWOX, TP53.
• P056 TP53: Contains probes for each exon of TP53.
• P105 Glioma: Contains nine probes for TP53, and more.

D006 Multiple Myeloma

• Product flyer
• Data demo set

General digitalMLPA resources

• digitalMLPA technique overview
• Coffalyser digitalMLPA overview
• Explore available digitalMLPA panels

digitalMLPA education

• Getting started with digitalMLPA
• On-demand webinar: digitalMLPA: Where MLPA Meets NGS
• Help centre with other learning resources

Selected publications using D006 Multiple Myeloma

• Croft J et al. (2021). Copy number evolution and its relationship with patient outcome-an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial. Leukemia. 35:2043-53.
• Kosztolányi S et al. (2018). High-Throughput Copy Number Profiling by Digital Multiplex Ligation-Dependent Probe Amplification in Multiple Myeloma. J Mol Diagn. 20:777-88.
• Menezes K et al. (2020). High-Throughput Molecular Cancer Cell Line Characterization Using Digital Multiplex Ligation-Dependent Probe Amplification for Improved Standardization of in Vitro Research. J Mol Diagn. 22:1179-88.

References

• Al Zaabi EA et al. (2010). Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience. J Mol Diagn. 12:197-203.
• Bernard-Slagter A et al. (2017). Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia. J Mol Diagn. 19:659-72.
• Coll-Mulet L et al. (2008). Multiplex ligation-dependent probe amplification for detection of genomic alterations in chronic lymphocytic leukaemia. Br J Haematol. 142:793-801.