6
human MASTR Solutions for Cardiology NGS based

Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

  • Upload
    others

  • View
    2

  • Download
    0

Embed Size (px)

Citation preview

Page 1: Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

Multiplicom

Target GenesTargeted MASTR assays for genes associated with Sudden Cardiac Death

Three ready-to-use MASTR assays for genes associated with inherited coronary, electrophysiological and structural heart

diseases, potenti al indicators for Sudden Cardiac Death.

Delivers Rapid and Reliable answersFocused on high mutation detection rates

Simple and Affordable

Multiplicom

ADH MASTR v2 PED MASTR Plus

Multiplicom

HCM MASTR

Multiplicom

LDLR, PCSK9, APOB (exon 26) and APOE (SNV+CNV)12 predisposing SNPs

Catalog No.: MR-0141.024

MYBPC3, MYH7, TNNI3, TNNT2, MYL2 (SNV+CNV)Catalog No.: MR-0090.024

ADH MASTR v2

PED MASTR Plus

HCM MASTR

(SNV) Catalog No.: MR-0260.024

Multiplicom N.V. [ a ] Galileïlaan 18, B-2845 Niel, Belgium [ w ] www.multiplicom.com [ e ] [email protected] [ t ] +32 3 289 14 00 [ f ] +32 3 400 23 16

ADH: Autosomal Dominant Hypercholesterolemia AF: Atrial Fibrillati on ARVD: Arrhythmogenic Right Ventricular Dysplasia BrS: Brugada Syndrome CNV: Copy Number Variati on CPVT: Catecholaminergic Polymorphic Right Ventricular Dysplasia LQTS: Long QT Syndrome MPS : Massively Parallel Sequencing SNP: Single Nucleoti de Polymorphism SNV: Single Nucleoti de Variati on SQTS: Short QT Syndrome

Abbreviati ons

ABCC9 CTNNA3 HCN4 KCNJ2 NPPA SCN4B

AKAP9 DES JUP KCNJ5 PKP2 SCN5A

ANK2 DPP6 KCNA5 KCNJ8 PLN SLMAP

CACNA1C DSC2 KCND3 KCNQ1 PRKAG2 SNTA1

CACNA2D1 DSG2 KCNE1 LMNA RYR2 TGFB3

CACNB2 DSP KCNE2 RANGRF SCN1B TMEM43

CALM1 GJA1 KCNE3 NKX2-5 SCN2B TRDN

CASQ2 GJA5 KCNE5 NOS1AP SCN3B TRPM4

CAV3 GPD1L KCNH2

human

MASTR Solutions for Cardiology

NGS based

v.1707 - EUFor Research Use Only. Not for use in diagnostic procedures.

Page 2: Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

Multiplicom

Target GenesTargeted MASTR assays for genes associated with Sudden Cardiac Death

Three ready-to-use MASTR assays for genes associated with inherited coronary, electrophysiological and structural heart

diseases, potenti al indicators for Sudden Cardiac Death.

Delivers Rapid and Reliable answersFocused on high mutation detection rates

Simple and Affordable

Multiplicom

ADH MASTR v2 PED MASTR Plus

Multiplicom

HCM MASTR

Multiplicom

LDLR, PCSK9, APOB (exon 26) and APOE (SNV+CNV)12 predisposing SNPs

Catalog No.: MR-0141.024

MYBPC3, MYH7, TNNI3, TNNT2, MYL2 (SNV+CNV)Catalog No.: MR-0090.024

ADH MASTR v2

PED MASTR Plus

HCM MASTR

(SNV) Catalog No.: MR-0260.024

Multiplicom N.V. [ a ] Galileïlaan 18, B-2845 Niel, Belgium [ w ] www.multiplicom.com [ e ] [email protected] [ t ] +32 3 289 14 00 [ f ] +32 3 400 23 16

ADH: Autosomal Dominant Hypercholesterolemia AF: Atrial Fibrillati on ARVD: Arrhythmogenic Right Ventricular Dysplasia BrS: Brugada Syndrome CNV: Copy Number Variati on CPVT: Catecholaminergic Polymorphic Right Ventricular Dysplasia LQTS: Long QT Syndrome MPS : Massively Parallel Sequencing SNP: Single Nucleoti de Polymorphism SNV: Single Nucleoti de Variati on SQTS: Short QT Syndrome

Abbreviati ons

ABCC9 CTNNA3 HCN4 KCNJ2 NPPA SCN4B

AKAP9 DES JUP KCNJ5 PKP2 SCN5A

ANK2 DPP6 KCNA5 KCNJ8 PLN SLMAP

CACNA1C DSC2 KCND3 KCNQ1 PRKAG2 SNTA1

CACNA2D1 DSG2 KCNE1 LMNA RYR2 TGFB3

CACNB2 DSP KCNE2 RANGRF SCN1B TMEM43

CALM1 GJA1 KCNE3 NKX2-5 SCN2B TRDN

CASQ2 GJA5 KCNE5 NOS1AP SCN3B TRPM4

CAV3 GPD1L KCNH2

human

MASTR Solutions for Cardiology

NGS based

v.1707 - EUFor Research Use Only. Not for use in diagnostic procedures.

Page 3: Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

Multiplicom

PED MASTR Plusfor identification of mutations associated with

primary electrical disorders (PED) predisposing to arrhythmias51 genes (SNV)

Multiplicom

HCM MASTRfor early detection of mutations associated with

hypertrophic cardiomyopathy (HCM)5 genes (SNV+CNV)

Multiplicom

UNIFORM COVERAGE 99 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY > 96 % on target reads counts

UNIFORM COVERAGE95 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY> 96 % on target reads counts

UNIFORM COVERAGE99 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY> 96 % on target reads counts

Dr. Alain Carrié

Hôpital Pitié Salpêtrière and University Pierre and Marie

Curie in Paris, France.

Dr. Pascale Richard

Hôpital Pitié Salpêtrièrein Paris, France.

Prof. Dr. Bart Loeys

Antwerp UniversityHospital, Belgium

ADH MASTR v2for identification of mutations associated with

monogenic and polygenic familiar hypercholesterolemia (FH)4 genes (SNV+CNV) & 12 predisposing SNPs

“ The ADH MASTR v2 assay is an e ffi cient, easy to implement and cost eff ecti ve NGS tool.”

“PED MASTR Plus assay is a proficient, highly reliable and reproducible technique to use in routine to screen for genes

associated with primary hereditary arrhythmias.”

“HCM MASTR facilitates robust and rapid sequencing of the 5 major HCM genes with high sensitivity.”

PED disorders are heterogenicand have a significant phenotypicand genetic overlap. The imageillustrates the number of genes,included in the PED MASTR Plus.

AF

LQTS

ARVD4

1

18

9

9

1

33

6

CPVT

Other

1

1

1

1

2

BrS SQTS

Plan run Multiplex PCR Quality Control Universal PCR Quality Control Equimolar poolingMixing plexes of single sample

Purification

Multiplex PCR Dilution Universal PCR Mixing Clean up Pooling

SEQUENCING DATA ANALYSIS

MASTR workflow

NGS

Page 4: Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

Multiplicom

PED MASTR Plusfor identification of mutations associated with

primary electrical disorders (PED) predisposing to arrhythmias51 genes (SNV)

Multiplicom

HCM MASTRfor early detection of mutations associated with

hypertrophic cardiomyopathy (HCM)5 genes (SNV+CNV)

Multiplicom

ADH MASTR v2for identification of mutations associated with

monogenic and polygenic familiar hypercholesterolemia (FH)4 genes (SNV+CNV) & 12 predisposing SNPs (1)

UNIFORM COVERAGE99 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY> 96 % on target reads counts

UNIFORM COVERAGE 95 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY > 96 % on target reads counts

UNIFORM COVERAGE99 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY> 96 % on target reads counts

Dr. Alain Carrié

Hôpital Pitié Salpêtrière andUniversity Pierre and Marie

Curie in Paris, France.

Dr. Pascale Richard

Hôpital Pitié Salpêtrièrein Paris, France.

Prof. Dr. Bart Loeys

Antwerp University Hospital, Belgium

“ The ADH MASTR v2 assay is an efficient, easy to implement and cost effective NGS tool.”

“PED MASTR Plus assay is a profi cient, highly reliable and reproducible technique to use in routi ne to screen for genes

associated with primary hereditary arrhythmias.”

“HCM MASTR facilitates robust and rapid sequencing of the 5 major HCM genes with high sensitivity.”

PED disorders are heterogenic and have a significant phenotypic and genetic overlap. The image illustrates the number of genes, included in the PED MASTR Plus.

AF

LQTS

ARVD4

1

18

9

9

1

33

6

CPVT

Other

1

1

1

1

2

BrS SQTS

Plan run Multiplex PCR Quality Control Universal PCR Quality Control Equimolar poolingMixing plexes of single sample

Purification

Multiplex PCR Dilution Universal PCR Mixing Clean up Pooling

SEQUENCING DATA ANALYSIS

MASTR workflow

NGS

Page 5: Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

Multiplicom

PED MASTR Plusfor identification of mutations associated with

primary electrical disorders (PED) predisposing to arrhythmias51 genes (SNV)

Multiplicom

HCM MASTRfor early detection of mutations associated with

hypertrophic cardiomyopathy (HCM)5 genes (SNV+CNV)

Multiplicom

ADH MASTR v2for identification of mutations associated with

monogenic and polygenic familiar hypercholesterolemia (FH)4 genes (SNV+CNV) & 12 predisposing SNPs (1)

UNIFORM COVERAGE99 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY> 96 % on target reads counts

UNIFORM COVERAGE95 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY> 96 % on target reads counts

UNIFORM COVERAGE 99 % amplicons detected ≥ 0.2x mean coverage

HIGH TARGET SPECIFICITY > 96 % on target reads counts

Dr. Alain Carrié

Hôpital Pitié Salpêtrière andUniversity Pierre and Marie

Curie in Paris, France.

Dr. Pascale Richard

Hôpital Pitié Salpêtrière in Paris, France.

Prof. Dr. Bart Loeys

Antwerp UniversityHospital, Belgium

“ The ADH MASTR v2 assay is an efficient, easy to implement and cost effective NGS tool.”

“PED MASTR Plus assay is a proficient, highly reliable and reproducible technique to use in routine to screen for genes

associated with primary hereditary arrhythmias.”

“HCM MASTR facilitates robust and rapid sequencing of the 5 major HCM genes with high sensiti vity.”

PED disorders are heterogenicand have a significant phenotypicand genetic overlap. The imageillustrates the number of genes,included in the PED MASTR Plus.

AF

LQTS

ARVD4

1

18

9

9

1

33

6

CPVT

Other

1

1

1

1

2

BrS SQTS

Plan run Multiplex PCR Quality Control Universal PCR Quality Control Equimolar poolingMixing plexes of single sample

Purifi cation

Multiplex PCR Dilution Universal PCR Mixing Clean up Pooling

SEQUENCING DATA ANALYSIS

MASTR workflow

NGS

Page 6: Multiplicom for Cardiology - Agilent Brochure MASTR Solutions for Cardio_A4...Multiplicom Targeted MASTR assays for genes Target Genes associated with Sudden Cardiac Death Three ready-to-use

Multiplicom

Target GenesTargeted MASTR assays for genes associated with Sudden Cardiac Death

Three ready-to-use MASTR assays for genes associated with inherited coronary, electrophysiological and structural heart

diseases, potential indicators for Sudden Cardiac Death.

Delivers Rapid and Reliable answersFocused on high mutation detection rates

Simple and Affordable

Multiplicom

ADH MASTR v2 PED MASTR Plus

Multiplicom

HCM MASTR

Multiplicom

LDLR, PCSK9, APOB (exon 26) and APOE (SNV+CNV)12 predisposing SNPs

Catalog No.: MR-0141.024

MYBPC3, MYH7, TNNI3, TNNT2, MYL2 (SNV+CNV)Catalog No.: MR-0090.024

ADH MASTR v2

PED MASTR Plus

HCM MASTR

(SNV) Catalog No.: MR-0260.024

Multiplicom N.V. [ a ] Galileïlaan 18, B-2845 Niel, Belgium [ w ] www.multiplicom.com [ e ] [email protected] [ t ] +32 3 289 14 00 [ f ] +32 3 400 23 16

ADH: Autosomal Dominant Hypercholesterolemia AF: Atrial Fibrillati on ARVD: Arrhythmogenic Right Ventricular Dysplasia

BrS: Brugada SyndromeCNV: Copy Number Variati on

CPVT: Catecholaminergic Polymorphic Right Ventricular Dysplasia LQTS: Long QT Syndrome MPS : Massively Parallel Sequencing

SNP: Single Nucleoti de Polymorphism SNV: Single Nucleoti de Variati on SQTS: Short QT Syndrome

Abbreviati ons

ABCC9 CTNNA3 HCN4 KCNJ2 NPPA SCN4B

AKAP9 DES JUP KCNJ5 PKP2 SCN5A

ANK2 DPP6 KCNA5 KCNJ8 PLN SLMAP

CACNA1C DSC2 KCND3 KCNQ1 PRKAG2 SNTA1

CACNA2D1 DSG2 KCNE1 LMNA RYR2 TGFB3

CACNB2 DSP KCNE2 RANGRF SCN1B TMEM43

CALM1 GJA1 KCNE3 NKX2-5 SCN2B TRDN

CASQ2 GJA5 KCNE5 NOS1AP SCN3B TRPM4

CAV3 GPD1L KCNH2

human

MASTR Solutions for Cardiology

NGS based

v.1707 - EUFor Research Use Only. Not for use in diagnostic procedures.