NXtec D002-A1 Hereditary Cancer Panel 2 is a research use only (RUO) assay for the detection of deletions or duplications and the presence/absence of several mutations (including inversions) in the genes shown in the image below and mentioned in Table 2 of the product description, which are associated with hereditary predisposition to a wide range of cancer types.

This probemix is an extension of NXtec D001-D1 Hereditary Cancer Panel 1, containing all target probes included in NXtec D001-D1 Hereditary Cancer Panel 1 plus additional targets exclusive to NXtec D002-A1 Hereditary Cancer Panel 2.

The image below shows all target genes and all targeted variants for this probemix as well as its overlap with NXtec D001-D1 Hereditary Cancer Panel 1.

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.

NXtec D002 Hereditary Cancer Panel 2 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.

See this support article for commercially available positive samples that can be used with this product.

Related digitalMLPA probemixes

• D001 Hereditary Cancer Panel 1: Focused panel that can detect CNVs in 28 genes and the presence of 5 targeted variants associated with 8 common cancer types. Cannot be used to confirm findings obtained with D002 Hereditary Cancer Panel 2 as all D001 probes are also included in D002.

Related conventional MLPA probemixes organised by gene

Click on any of the gene names below to find conventional MLPA probemixes that target this gene and whether they can be used to confirm findings obtained with D002 Hereditary Cancer Panel 2 (more than 50% of the target probes for the gene in question have different ligation sites to those in NXtec D002 Hereditary Cancer Panel 2 - some may still have identical ligation sites). Contact us if more information is required.

APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CEBPA, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, MAX, MEN1, MET, MLH1, MSH2, MSH6, MITF, MUTYH, NBN, NF1, NF2, PALB2, PHOX2B, PMS2, POLD1, POLE, PTCH1, PTEN, RAD51C, RAD51D, RB1, RUNX1, SCG5/GREM1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1.

APC

• P043 APC: Contains probes for APC and can be used for confirmation ✔. Also contains probes for MUTYH.

ATM

• P041 ATM-1: Contains probes for ATM and can be used for confirmation ✔.
• P042 ATM-2: Contains probes for ATM and can be used for confirmation ✔.

BAP1

• P417 BAP1: Contains probes for BAP1 but cannot be used for confirmation ✖.

BARD1

• P489 BARD1: Contains probes for BARD1 but cannot be used for confirmation ✖.

BMPR1A

• P158 JPS: Contains probes for BMPR1A and can be used for confirmation ✔. Also contains probes for SMAD4 and PTEN.

BRCA1

• P002 BRCA1: Contains probes for BRCA1 but cannot be used for confirmation ✖.
• P087 BRCA1 Confirmation: Contains probes for BRCA1 and can be used for confirmation ✔.

BRCA2

• P045 BRCA2/CHEK2: Contains probes for BRCA2 but cannot be used for confirmation ✖. Also contains probes for CHEK2.
• P077 BRCA2 Confirmation: Contains probes for BRCA2 and can be used for confirmation ✔.
• P090 BRCA2: Contains probes for BRCA2 but cannot be used for confirmation ✖.

BRIP1

• P240 BRIP1/CHEK1: Contains probes for BRIP1 and can be used for confirmation ✔. Also contains probes for CHEK1 (this gene is not targeted by NXtec D002 Hereditary Cancer Panel 2).

CDH1

• P083 CDH1: Contains probes for CDH1 and can be used for confirmation ✔.

CEBPA

• P437 Familial MDS-AML: Contains probes for CEBPA and can be used for confirmation ✔. Also contains probes for RUNX1.

CDK4

• P419 CDKN2A/2B-CDK4: Contains probes for CDK4 but cannot be used for confirmation ✖. Also contains probes for CDKN2A, CDKN2B (not targeted by NXtec D002 Hereditary Cancer Panel 2) and a probe for MITF c.952G>A (p.E318K).

CDKN2A

• P419 CDKN2A/2B-CDK4: Contains probes for CDKN2A but cannot be used for confirmation ✖. Also contains probes for CDK4, CDKN2B (not targeted by NXtec D002 Hereditary Cancer Panel 2) and a probe for MITF c.952G>A (p.E318K).

CHEK2

• P045 BRCA2/CHEK2: Contains probes for CHEK2 but cannot be used for confirmation ✖. Also contains probes for BRCA2.
• P056 TP53: Contains probes for CHEK2 but cannot be used for confirmation ✖. Also contains probes for TP53.
• P190 CHEK2: Contains probes for CHEK2 but cannot be used for confirmation ✖.

DICER1

• P482 DICER1: Contains probes for DICER1 and can be used for confirmation ✔.

EPCAM

• P003 MLH1/MSH2: Contains probes for EPCAM but cannot be used for confirmation ✖. Also contains probes for MLH1 and MSH2.
• P072 MSH6-MUTYH: Contains probes for EPCAM but cannot be used for confirmation ✖. Also contains probes for MSH6 and MUTYH.

FH

• P198 FH: Contains probes for FH and can be used for confirmation ✔.

FLCN

• P256 FLCN: Contains probes for FLCN and can be used for confirmation ✔.

MAX

• P429 SDHA-MAX-TMEM127: Contains probes for MAX but cannot be used for confirmation ✖. Also contains probes for SDHA and TMEM127.

MEN1

• P017 MEN1: Contains probes for MEN1 and can be used for confirmation ✔.
• P244 AIP-MEN1-CDKN1B: Contains probes for MEN1 and can be used for confirmation ✔. Also contains probes for AIP and CDKN1B (these genes are not targeted by NXtec D002 Hereditary Cancer Panel 2).

MET

• P308 MET: Contains probes for MET and can be used for confirmation ✔.

MLH1

• P003 MLH1/MSH2: Contains probes for MLH1 but cannot be used for confirmation ✖. Also contains probes for MSH2 and EPCAM.
• P248 MLH1-MSH2 Confirmation: Contains probes for MLH1 and can be used for confirmation ✔. Also contains probes for MSH2.

MSH2

• P003 MLH1/MSH2: Contains probes for MSH2 but cannot be used for confirmation ✖. Also contains probes for MLH1 and EPCAM.
• P248 MLH1-MSH2 Confirmation: Contains probes for MSH2 and can be used for confirmation ✔. Also contains probes for MLH1.

MSH6

• P072 MSH6-MUTYH: Contains probes for MSH6 but cannot be used for confirmation ✖. Also contains probes for MUTYH and EPCAM.

MITF c.952G>A (p.E318K)

• P419 CDKN2A/2B-CDK4: Contains a probe for MITF c.952G>A (p.E318K) but cannot be used for confirmation ✖. Also contains probes for CDKN2A, CDK4 and CDKN2B (this gene is not targeted by NXtec D002 Hereditary Cancer Panel 2).

MUTYH

• P043 APC: Contains probes for MUTYH but cannot be used for confirmation ✖. Also contains probes for APC.
• P072 MSH6-MUTYH: Contains probes for MUTYH but cannot be used for confirmation ✖. Also contains probes for MSH6 and EPCAM.
• P378 MUTYH: Contains probes for MUTYH but cannot be used for confirmation ✖. Also contains probes for SCG5/GREM1.

NBN

• P494 NBN: Contains probes for NBN but cannot be used for confirmation ✖.

NF1

• P081 NF1 mix 1: Contains probes for NF1 and can be used for confirmation ✔.
• P082 NF1 mix 2: Contains probes for NF1 and can be used for confirmation ✔.

NF2

• P044 NF2: Contains probes for NF2 and can be used for confirmation ✔.

PALB2

• P057 FANCD2-PALB2: Contains probes for PALB2 and can be used for confirmation ✔.
• P260 PALB2-RAD50-RAD51C-RAD51D: Contains probes for PALB2 and can be used for confirmation ✔. Also contains probes for RAD51C, RAD51D and RAD50 (this gene is not targeted by NXtec D002 Hereditary Cancer Panel 2).

PHOX2B

• P318 Hirschsprung-2: Contains probes for PHOX2B and can be used for confirmation ✔.

PMS2

• P008 PMS2: Contains probes for PMS2 but cannot be used for confirmation ✖.

POLD1

• P492 POLD1 - POLE: Contains probes for POLD1 but cannot be used for confirmation ✖. Also contains probes for POLE.

POLE

• P492 POLD1 - POLE: Contains probes for POLE but cannot be used for confirmation ✖. Also contains probes for POLD1.

PTCH1

• P067 PTCH1: Contains probes for PTCH1 and can be used for confirmation ✔.

PTEN

• P158 JPS: Contains probes for PTEN but cannot be used for confirmation ✖. Also contains probes for BMPR1A and SMAD4.
• P225 PTEN: Contains probes for PTEN but cannot be used for confirmation ✖.

RAD51C

• P260 PALB2-RAD50-RAD51C-RAD51D: Contains probes for RAD51C and can be used for confirmation ✔. Also contains probes for PALB2, RAD51D and RAD50 (this gene is not targeted by NXtec D002 Hereditary Cancer Panel 2).

RAD51D

• P260 PALB2-RAD50-RAD51C-RAD51D: Contains probes for RAD51D and can be used for confirmation ✔. Also contains probes for PALB2, RAD51C and RAD50 (this gene is not targeted by NXtec D002 Hereditary Cancer Panel 2).

RB1

• P047 RB1: Contains probes for RB1 and can be used for confirmation ✔.

RUNX1

• P437 Familial MDS-AML: Contains probes for RUNX1 and can be used for confirmation ✔. Also contains probes for CEBPA.

SCG5/GREM1

• P378 MUTYH: Contains probes for SCG5/GREM1 but cannot be used for confirmation ✖. Also contains probes for MUTYH.

SDHA

• P429 SDHA-MAX-TMEM127: Contains probes for SDHA but cannot be used for confirmation ✖. Also contains probes for MAX and TMEM127.

SDHAF2

• P226 SDH: Contains probes for SDHAF2 and can be used for confirmation ✔. Also contains probes for SDHB, SDHC and SDHD.

SDHB

• P226 SDH: Contains probes for SDHB and can be used for confirmation ✔. Also contains probes for SDHAF2, SDHC and SDHD.

SDHC

• P226 SDH: Contains probes for SDHC and can be used for confirmation ✔. Also contains probes for SDHAF2, SDHB and SDHD.

SDHD

• P226 SDH: Contains probes for SDHD and can be used for confirmation ✔. Also contains probes for SDHAF2, SDHB and SDHC.

SMAD4

• P158 JPS: Contains probes for SMAD4 and can be used for confirmation ✔. Also contains probes for BMPR1A and PTEN.

SMARCB1

• P258 SMARCB1: Contains probes for SMARCB1 and can be used for confirmation ✔.

STK11

• P101 STK11: Contains probes for STK11 and can be used for confirmation ✔.

SUFU

• P472 SUFU: Contains probes for SUFU and can be used for confirmation ✔.

TMEM127

• P429 SDHA-MAX-TMEM127: Contains probes for TMEM127 but cannot be used for confirmation ✖. Also contains probes for MAX and SDHA.

TP53

• P056 TP53: Contains probes for TP53 but cannot be used for confirmation ✖. Also contains probes for CHEK2.

TSC1

• P124 TSC1: Contains probes for TSC1 and can be used for confirmation ✔.

TSC2

• P046 TSC2: Contains probes for TSC2 but cannot be used for confirmation ✖.
• P337 TSC2 Confirmation: Contains probes for TSC2 and can be used for confirmation ✔.

VHL

• P016 VHL: Contains probes for VHL and can be used for confirmation ✔.

WT1

• P118 WT1: Contains probes for WT1 and can be used for confirmation ✔.

D002 Hereditary Cancer Panel 2

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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