EasySeq™ Human Genetics

RC-PCR Powered NGS Library Prep for identification of prognostic and predictive markers of inherited disease. Complemented by Human DNA Sample Identification, sample identity and associated WES and WGS data integrity and validity are safeguarded, integrated with the existing NGS workflow.

Targeted Resequencing of CFTR Gene Mutations and HotSpots

Cystic fibrosis (CF) is one of the most common recessive disorders, caused by variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene testing can be performed for diagnostic or screening purposes. In general, carrier screening is performed in close relatives of a CF patient, with partners of individuals carrying a CF mutation, or prenatally if parents are known CF carriers.

 

CFTR testing has shown an increasing trend over the past few years, the older genetic tests, such as capillary electrophoresis based Fragment Analysis, applying pre-set panels of the most common CFTR mutations with reference to a specific population. The introduction of high-throughput Next-generation Sequencing (NGS) has allowed the effective analysis of the entire CFTR gene, aimed at evaluation of the frequency or type of CFTR variants. The analysis of specific CFTR gene hotspots provides further rapid targeted screening for the most common disease-causing variants. 

EasySeq™ CFTR Gene and CFTR HotSpots Library Prep

EasySeq™ CFTR Sequencing Kit

EasySeq™ CFTR Sequencing Kit provides full and uniform coverage of 41 CFTR gene coding exons, including a minimum of 20 bases upstream and downstream of each exon, plus 2 flanking intronic mutations. The library prep multiplex amplification is based on two probe panels, designed for use with DNA extracted from peripheral blood, saliva or buccal swab; this can be genomic DNA, or e.g. Whole-genome Amplified DNA. For Research Use Only.

EasySeq™ CFTR HotSpots Sequencing Kit

EasySeq™ CFTR HotSpots Sequencing Kit is purpose-designed for sequencing of 50 hotspot mutations of the CFTR gene, associated with the most common Cystic Fibrosis disease-causing variants that are found in the European population. Like the CFTR full gene assay, library prep is performed using DNA extracted from peripheral blood, saliva or buccal swab; this can be genomic DNA, or e.g. Whole-genome Amplified DNA. For Research Use Only.

Targeted Sequencing of Cancer-associated Genes

A well-known hallmark of breast cancer is the accumulation of mutations that lead to genetic instability. Mutations in the
inheritable genes BRCA1, BRCA2, CHEK2 and PALB2 are associated with increased breast cancer risk. TP53 is the most
frequently mutated tumor suppressor gene in all human cancers. Therefore, early detection of these mutations remains
a vital preventative measure, especially in families with a known (breast) cancer history.

EasySeq™ BRCA 1/2 + CHEK2 HS, TP53 and PALB2 Library Prep

EasySeq™ BRCA 1/2 + CHEK2 HS Sequencing Kit

EasySeq™ BRCA 1/2 + CHEK2 HS Kit for human gene re-sequencing provides a straightforward library preparation of all coding exons of the BRCA1, BRCA2 and mutation hotspot CHEK2 (1100del C mutation, NM_001005735) cancer associated genes, including a minimum of 20 bases upstream and downstream of each exon. EasySeq™ BRCA1/2 + CHEK2 is designed for illumina® and is for use with DNA extracted from peripheral blood or tumor tissue. For Research Use Only.

AmpliClean™ Cleanup Kit, Magnetic Beads

The AmpliClean™ Cleanup Kit provides highly efficient and cost-effective magnetic bead-based cleanup and size selection of NGS libraries. AmpliClean™ removes, salts, primers, primer-dimers and dNTPs, leaving ultra-pure DNA of the desired length. The AmpliClean™ protocol is highly flexible for manual operation and can be easily incorporated in any liquid handling system for automated processing. A widely adopted alternative to AMPure XP beads. AMPure XP is a trademark of Beckman Coulter.

EasySeq™ TP53 Sequencing Kit

EasySeq™ TP53 Kit provides multiplex re-sequencing through the straightforward RC-PCR powered library preparation of all coding exons of the TP53 gene, including a minimum of 20 bases upstream and downstream of each exon. EasySeq™ TP53 is designed for illumina® and is for use with DNA extracted from peripheral blood or tumor tissue.  For Research Use Only.

EasySeq™ PALB2 Sequencing Kit

EasySeq™ PALB2 Kit for human gene re-sequencing provides a straightforward library preparation of all coding exons of the PALB2 single gene, including a minimum of 20 bases upstream and downstream of each exon. EasySeq™ PALB2 is designed for illumina® and is for use with DNA extracted from peripheral blood or tumor tissue.  For Research Use Only.

Human DNA Sample Identification Intrinsic to WES/WGS Data

Complex sample preparation workflows and challenges handling multiple Next-Generation Sequencing (NGS) samples make misidentification of samples at any stage of the analytical process a recognizable concern. A method for independent confirmation of sample identity is therefore highly desirable, preferably using an identification method that is intrinsic to the WGS/WES data of the biological sample and simple to incorporate into the existing NGS workflow.

 

EasySeq™ Human DNA Sample Identification Kits offer a simple, seamlessly integrated NGS approach to ensure sample identification and tracking from an early step in the NGS workflow, using either extracted DNA or running multiplex RC-PCR directly on the blood sample (fresh or frozen blood, dried bloodspots). NimaGen offers two Illumina® compatible versions of the EasySeq™ Human DNA Sample Identification Kit, using the same optimized panel of 40 exonic targets, the genotypic profile which can be utilized to extract intrinsic identifiers from the human exome and genome.

EasySeq™ Human DNA Sample Identification

EasySeq™ Human DNA Sample Identification Kit

EasySeq™ Human DNA Sample Identification Kit supports an NGS driven human DNA sample tracking and identification strategy for human genetics, using a single-panel multiplex RC-PCR reaction. It allows direct amplification of DNA isolated from human blood samples, i.e. fresh or frozen blood, or dry bloodspots. EasySeq™ Human DNA Sample Identification Kit is complementary to both Whole Exome and Whole Genome Sequencing Sample workflows. Sample IDs are intrinsically matched with WES/WGS data and, as a result, data integrity and validity can be confirmed. The kit comprises an optimized panel of 40 exonic targets: 37 exonic single nucleotide polymorphisms (SNPs) with high minor allele frequency (MAF), and Amelogenin X - Y and TXLNGY for gender determination.

EasySeq™ Human DNA Sample Identification Kit - Blood Direct

EasySeq™ Human DNA Sample Identification Blood Direct Kit facilitates an effective end-to-end identification and tracking of independent samples, integrated into the existing NGS workflow. Comprising the same optimized panel of 37 SNPs and Amelogenin X - Y and TXLNGY targets, it allows matching sample IDs with WES/WGS data, ensuring correct confirmation of data integrity and validity. EasySeq™ Human DNA Sample Identification Blood Direct Kit offers validation of sample identity from the very first step of the WES/WGS workflow, including DNA isolation: RC-PCR can be performed directly on the blood sample, i.e. fresh or frozen blood, or dry bloodspots. 

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RC-PCR powered NGS Library Prep

Powered by patented Reverse Complement PCR (RC-PCR) technology, EasySeq™ provides a simple and safe one-tube single reaction NGS Library Prep workflow, combined with high assay sensitivity, specificity and discriminatory power required in human (inherited) disease screening, as well as in human sample ID tracking.

EasySeq™ NGS Library Prep provides a cost-efficient workflow, confidence in test results and choice (flexibility) relative to laboratory workload and resources, offering an ideal solution for public health, national screening programs and clinical research laboratories, even those lacking NGS experience.

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