Molecular technologies

NGS Molecular Diagnostics
Pavel Jakoubek

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Pavel

Jakoubek

+420 731 426 055

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NGS Molecular Diagnostics

High value genetic tests

Recent advances in various areas of clinical medicine, diagnostics and genetic testing have created a significant opportunity for the development of high value genetic tests to enable the practice of personalized medicine.

The availability of affordable massively parallel sequencing systems provides the foundation on which PCR based technologies can be applied to address a wide range of unmet needs.

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NGS Molecular Diagnostics products

These kits are to be used for the second PCR step to incorporate barcoding and adaptors required for 454 GS Junior or 454 GS FLX instruments (Roche).

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The ADH MASTR v2 is a molecular assay (research use only) for the identification of all SNVs and CNVs in LDLR, PCSK9, APOE, part of exon 26 (c.10200 to c.11100) of APOB and 12 SNPs underlying Autosomal Dominant Hypercholesterolemia.

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The ALPORT MASTR amplifies the coding regions of the genes COL4A3, COL4A4 and COL4A5.

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The BRCA Hereditary Cancer MASTR Plus is a molecular assay for the identification of all mutations and CNVs in the 26 selected genes.

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A homopolymer assay for MASTR™ assays to allow rapid detection of small insertion/deletion mutations in the coding homopolymer stretches of the targeted genes.

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The BRCA MAQ assay is intended for CNV detection in the BRCA1 and BRCA2 genes.

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BRCA MASTR™ Dx is a CE-IVD labeled molecular diagnostic assay for the identification of mutations in the coding regions of BRCA1 and BRCA2 in individuals with increased risk for breast, ovarian and/or related cancers.

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BRCA Tumor MASTR™ Plus Dx is a CE-IVD-labeled molecular diagnostic assay for the identification of mutations in the coding regions of the BRCA1 and BRCA2 genes in cancer patients.

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BRCA Tumor MASTR™ Plus (RUO) is a molecular assay for the identification of mutations in the coding regions of the BRCA1 and BRCA2 genes in cancer patients.

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A homopolymer assay for MASTR™ assays to allow rapid detection of small insertion/deletion mutations in the coding homopolymer stretches of the targeted genes.

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The CFTR MASTR™ Dx is a molecular diagnostic assay for identification of sequence variants covering the complete CFTR gene in individuals with increased risk for CF, in CF-carriers or CF-related phenotypes.

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Clarigo™ is a CE marked non-invasive prenatal test (NIPT), specifically designed for implementation in local clinical laboratories to enable NIPT for all.

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The CLL MASTR Plus is a molecular assay for the identification of both SNVs and CNAs in 9 selected genes in individuals with indication of Chronic lymphocytic leukemia (CLL).

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The DMD MASTR assay amplifies the coding region of the DMD gene implicated in Duchenne Muscular Dystrophy (DMD).

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The drMID for Illumina NGS systems is developed for incorporating molecular identifiers (MIDs) and adaptors into amplicons of MASTR-based assays, enabling Next-Generating Sequencing (NGS) in 2 directions (dual read) on all Illumina NGS platforms.

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The EGFR MASTR assay amplifies exons 18 to 21 of the EGFR gene and consists of 4 amplicons in a single multiplex PCR reaction.

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A homopolymer assay for MASTR™ assays to allow rapid detection of small insertion/deletion mutations in the coding homopolymer stretches of the targeted genes.

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FAP MASTR™ is a molecular assay for the identification or confirmation of the presence or absence of mutations in the complete coding regions of the APC and MUTYH genes.

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The FMF MASTR Dx is a molecular diagnostic assay for the identification of all mutations in the Mediterranean Fever (MEFV) gene underlying FMF.

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The GIST MASTR assay amplifies exons 9, 11, 13, 14, 15, 16, 17 of the KIT gene and exons 8, 10, 12, 14, 18 of the PDGFRA gene.

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The HCM MASTR assay amplifies the entire coding regions of MYBPC3, MYH7, TNNI3, TNNT2, and MYL2 genes.

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A homopolymer assay for MASTR™ assays to allow rapid detection of small insertion/deletion mutations in the coding homopolymer stretches of the targeted genes.

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The HNPCC MASTR Plus is a molecular assay (research use only) for the identification of all mutations and CNVs in 4 genes (MLH1, MSH2, MSH6, and PMS2) and 3’ UTR of EPCAM associated with hereditary non-polyposis colorectal cancer (HNPCC).

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MARFAN MASTR is a ready to use MPS based molecular assay for early detection of FBN1 mutations. The MARFAN MASTR amplifies the coding regions of the FBN1 gene, including SNVs and CNVs, implicated in the Marfan syndrome.

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These kits are to be used in combination with the MASTR™ assays.

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The kits are to be used in combination with the MASTR™ assays for the second PCR to incorporate barcoding and adaptors required for the Ion PGM™ System.

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The MODY MASTR assay amplifies the entire coding regions of the ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS and KCNJ11 genes.

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The PED MASTR Plus is a molecular assay (research use only) for the identification of all mutations in 51 genes underlying PED.

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The QC plex assay enables the qualitative and quantitative assessment of human DNA.

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This assay is to be used in combination with the MASTR assays, for applications on

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SOMATIC 1 MASTR™ Plus Dx is a CE-IVD labeled molecular diagnostic assay for the identification of mutations in NRAS, KRAS and BRAF genes in cancer patients.

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The SOMATIC 1 MASTR Plus is a molecular assay (Research Use Only) for the identification of all mutations in the NRAS, KRAS and BRAF genes in individuals with various types of cancer.

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The SOMATIC 2 MASTR Plus is a molecular assay for the identification of all mutations in the coding region of the EGFR, ERBB2, PIK3CA, PIK3R1 and PTEN genes in various types of solid tumors.

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STARGARDT MASTR is a ready to use MPS based molecular assay for early detection of ABCA4, ELOVL4 and CNGB3 mutations associated with Stargardt macular dystrophy.

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The TP53 MASTR identifies SNVs and small indels in the coding region of TP53.

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The Tumor Hotspot MASTR™ Plus is a molecular assay (research use only) for the identification of SNVs and CNAs in frequently mutated genes in solid tumors.

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Whole Genome (WG) MAQ is a CNV confirmation tool that enables fast and flexible CNV confirmation of individual copy number events.

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We supply and support Life-Science Technologies in the territory of Central and Eastern Europe.

Czech Republic

Slovakia

Hungary

Poland

Croatia

Slovenia

Serbia

Romania

Bulgaria

Latvia

Lithuania

Estonia

Russia

Ukraine

Belarus

Turkey