Amplicon Sequencing For Studying Genetic Disorders

The Advantages of Amplicon Sequencing for Genetic Disorder Research

Amplicon sequencing has become a preferred approach for studying genetic disorders due to its targeted nature and efficiency. Unlike whole genome sequencing, amplicon sequencing zeroes in on regions of interest associated with particular diseases. This focus on specific genes, which simplifies data analysis, reduces the volume of raw sequence data and increases accuracy in detecting genetic variants.

Advanced PCR amplification enables researchers to selectively copy and sequence only the regions associated with specific disorders, enhancing precision and making data more manageable compared to whole genome sequencing. This method also allows for targeted mutation sequencing, an effective strategy for studying genetic diversity within disease-linked genes.

As sequencing technology continues to evolve, amplicon sequencing remains a powerful, cost-effective option for genetic research, particularly in studies requiring analysis of specific genetic mutations.

Key Panels for Genetic Disorder Research

Paragon Genomics offers a suite of specialized panels providing researchers with high-quality sequence data and efficient workflows:

CleanPlex® Hereditary Cancer Kit v2: Targeting Hereditary Cancer Mutations

The CleanPlex Hereditary Cancer Kit v2 is a targeted sequencing assay optimized for identifying genetic mutations that increase hereditary cancer risk. This panel covers 37 genes associated with various cancers, such as breast, ovarian, prostate, and colorectal cancers, by detecting both single nucleotide variants (SNVs) and indels. Additionally, it identifies specific mutations, such as BRCA1 3′ UTR hotspot mutations (rs12516 and rs8176318) and structural rearrangements like the Boland inversion in the MSH2 gene. With a streamlined workflow requiring just 20ng of DNA, this kit enables researchers to generate sequencing-ready libraries in only three hours, making it a powerful tool for exploring genetic risk factors in hereditary cancers.

The updated v2 kit enhances efficiency by reducing the number of required PCR primer pools from four to two, offering excellent on-target performance and high coverage uniformity. This improvement facilitates the generation of reliable amplicon sequencing data for analyzing genetic variants within cancer-linked genes.

CleanPlex® CFTR Kit: Comprehensive Analysis of the CFTR Gene

The CleanPlex CFTR Kit is a multiplex PCR-based targeted sequencing assay focused on the CFTR gene, which is central to cystic fibrosis research. Covering all exonic regions and flanking intronic sequences, this panel provides comprehensive detection of genetic mutations within the CFTR gene. With a minimal DNA input of 10 ng, researchers can prepare sequencing-ready libraries in just three hours, gaining accurate insights into genetic variants associated with cystic fibrosis. The panel’s high coverage uniformity and efficient performance make it ideal for examining clinical samples with precision and reliability, allowing for a thorough evaluation of CFTR gene mutations.

CleanPlex® Mitochondrial Disease Kit: Complete Mitochondrial Genome Coverage

The CleanPlex Mitochondrial Disease Kit provides complete coverage of the human mitochondrial genome, facilitating the study of mutations associated with mitochondrial diseases. Encompassing all 37 genes within the ~17 kb mitochondrial genome, this panel captures essential variants linked to various mitochondrial disorders. The kit requires only 2 ng of DNA, making it highly accessible for research applications. With an optimized workflow that produces sequencing-ready libraries in three hours, this panel delivers high on-target performance and coverage uniformity, ensuring efficient use of sequencing reads while enabling in-depth analysis of mitochondrial DNA.

Applications and Future Potential in Clinical Research

Amplicon sequencing has extensive applications in clinical research, supporting genetic disorder analysis through targeted sequencing aligned with next generation sequencing (NGS) platforms. Its ability to detect genetic variants with high accuracy makes it valuable in areas such as carrier testing, newborn screening, and pre-symptomatic screening for hereditary diseases. Researchers studying genetic diversity within populations also use this approach to understand how genetic mutations influence disease prevalence.

Looking forward, amplicon sequencing holds significant potential in personalized medicine. By focusing on specific genes and leveraging advanced sequencing platforms, researchers can tailor treatments based on individual genetic profiles.

As sequencing technology continues to advance and NGS integration increases, targeted sequencing is poised to play an even greater role in clinical settings, uncovering the genetic foundations of complex diseases with enhanced precision and efficiency. For conditions like sickle cell disease and other hereditary disorders, amplicon sequencing offers a direct pathway to actionable clinical outcomes.

Genetic Disorder Research with Paragon Genomics

With support from advanced NGS platforms, Paragon Genomics’ CleanPlex panels provide precision and clarity for studying genetic disorders. These panels streamline workflows and reduce data complexity, empowering researchers to focus on specific genetic mutations with high-quality results. Whether studying hereditary cancers, cystic fibrosis, or mitochondrial diseases, Paragon’s panels help scientists advance the understanding of genetic disorders with confidence. Additionally, Paragon Genomics’ Custom Panel design offers flexibility for researchers seeking to address unique research needs that off-the-shelf options cannot fulfill, making it ideal for those focusing on specific or rare genetic disorders.