Nucleic acid detection plays a crucial role in the diagnosis of rare genetic diseases. At our company, we are dedicated to the development of top-tier nucleic acid detection reagents/kits that facilitate early identification and precise diagnosis of these conditions. By partnering with us, you gain access to state-of-the-art nucleic acid detection technology, empowering you to make significant strides in the field of rare disease diagnosis.

Nucleic Acid Detection Reagents/Kits for Rare Diseases

Nucleic acid detection reagents/kits designed for rare disease diagnosis are specifically tailored to detect disease-specific genetic mutations or pathogen-derived nucleic acids. These reagents/kits enable accurate and sensitive detection of rare disease markers, aiding in early diagnosis and monitoring of the disease progression.

Table. 1 Rare disease nucleic acid detection kits available on the market.

Fig. 1 Overview of nucleic acid testing for SARS-CoV-2. (Yoo, Hee Min, et al., 2021)

Our Services

With our comprehensive expertise and cutting-edge technologies, we offer tailored solutions in the development of nucleic acid detection reagents/kits. Our highly skilled scientists work meticulously to fine-tune reaction conditions and optimize test parameters to ensure superior sensitivity, specificity, and detection efficiency.

Workflow of Nucleic Acid Detection Reagents/Kits Development

Target Sequence Selection

First, our experts will conduct a comprehensive analysis of disease-related genetic mutations or pathogen-specific genetic markers to identify suitable target nucleic acid sequences.

Primer/Probe Design

Primers and probes specifically bind to target sequences during amplification or hybridization steps. Our company utilizes advanced bioinformatics tools and algorithms to design primers and probes with high specificity and efficiency.

Assay Format Selection and Optimization

There are a variety of assay formats available, including PCR, RT-PCR, LAMP, and others. Once an assay is determined, we will optimize it. This involves adjusting parameters such as primer/probe concentration, reaction buffer composition, annealing temperature, and cycling conditions to maximize the specificity and efficiency of the assay process.

Development of Reagents and Enzymes

This phase includes the selection and formulation of necessary components such as DNA polymerase, reverse transcriptase, buffers, and nucleotides. Reagents are optimized to ensure optimal performance, stability, and compatibility with the chosen assay format.

Performance Validation and Optimization

Next, our scientists test the kit using known positive and negative samples to evaluate its sensitivity, specificity, accuracy, and dynamic range. Statistical analysis is performed to validate performance parameters and any necessary adjustments are made to optimize the kit's performance.

Kit Assembly and Quality Control

Finally, the kit is assembled to obtain a complete nucleic acid detection product. Our company follows strict quality control measures throughout the kit assembly process to ensure consistent and reliable performance.

Application of Nucleic Acid Detection Reagents/Kits

Nucleic acid detection reagents/kits can be used for diagnosing a wide range of rare genetic diseases. These kits enable the detection and analysis of specific nucleic acid sequences associated with various genetic disorders. Applicable rare diseases are listed below.

Our Advantages

Trust our expertise to provide best-in-class reagents and kits to help you advance research in rare disease diagnosis. If you are interested in our services, please don't hesitate to contact us for further information and pricing details.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.