Inherited Dsorder

Q: Q1: How to Choose the Right Panel?

If your research focuses on specific genes or gene clusters (such as DMD or hemoglobin genes), we recommend selecting a corresponding specialized panel to achieve optimal coverage and detection performance. For studies requiring coverage of multiple genomic regions, our customized services offer flexible design options tailored to your needs.

Q: Q2: What are the sample requirements?

Common sample types including blood and oral swabs are accepted. Each panel has specific recommendations for DNA input quantity and quality—please refer to the detailed product specifications for guidance.

Q: Q3: Do you provide bioinformatics analysis support?

Yes, we offer end-to-end sequencing services, including professional bioinformatics analysis pipelines to help you extract meaningful variant information from raw data. Our bioinformatics services are also available upon inquiry.

Q: Q4: Interested in customizing your own panel?

With extensive expertise in probe design and panel development, we provide tailored solutions based on your target region list. Contact our specialist team to discuss your requirements.

Inherited Disorder NGS Panels

DNA damage illustration for early disease detection

CD Genomics Inherited Disorder NGS Panels utilize next-generation sequencing (NGS) technology to deliver an efficient and comprehensive solution for detecting genetic variations. Our panels are meticulously designed to simultaneously identify single nucleotide variants (SNVs), insertions and deletions (Indels), structural variants (SVs), copy number variations (CNVs), and complex gene rearrangements associated with specific inherited disorders—overcoming the limitations of traditional detection methods. These solutions provide critical technological support for researchers to deeply explore disease mechanisms, accelerate drug development, and ultimately advance personalized medical strategies.

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Feature Highlights

Comprehensive Screening: Detects a wide range of variant types in a single assay, reducing the need for multiple tests and minimizing the risk of missed findings.
In-Depth Analysis: Accurately identify challenging pathogenic variants such as deep intronic mutations and CNV breakpoints, enabling deeper investigation into disease etiology.

Translational Research Support: Provide a solid data foundation for genetic diagnosis, novel biomarker discovery, and the development of personalized treatment approaches.
Flexibility and Efficiency: Offer various panel options tailored to different genomic regions and research needs, optimizing workflow efficiency and cost-effectiveness.

Abstract digital concept of DNA molecular structure

Custom Inherited Disease Panels

Spanning neurological, cardiovascular, metabolic, and musculoskeletal disorders, etc.
Over 900 genes are available for targeted testing.
High-throughput, accurate, cost-effective detection of gene variations with reliable results.

Why Choose CD Genomics Inherited Disorder NGS Panels?

Our product line shares core technological strengths designed to deliver reliable and high-quality research data:

Superior Capture Performance: Leverages optimized hybridization capture technology to ensure high uniformity and extensive coverage of target regions, guaranteeing outstanding data quality.
Accurate Variant Detection: Features a bioinformatics pipeline specially optimized to precisely identify not only SNVs/Indels but also structural variants (SVs), CNV breakpoints, and complex rearrangement events.
Flexible Solutions: Offers a wide selection of panels covering core coding regions, regulatory areas, nuclear genome, and mitochondrial genome, with support for customized Spike-in solutions to meet unique research needs.
Proven Reliability: Each panel undergoes rigorous performance validation using standard reference materials, supported by detailed experimental data to ensure accuracy and reproducibility.
Broad Platform Compatibility: Compatible with mainstream Illumina sequencing platforms for seamless integration into your lab workflow.

Applications of Our Inherited Disorder Panels

Whether your research focuses on single-gene inherited disorders or more complex genetic diseases, CDCapTM and CDAmpTM technologies are designed to deliver solutions tailored to your needs. Whether you choose a targeted panel or require full exome coverage, all our panels ensure exceptional uniformity and depth of coverage.

Targeted Gene Panels

Our panels for inherited disease research enable scientists to investigate a curated set of genes—scientifically annotated based on phenotypes and diseases—that are commonly associated with potential mutations. We currently offer panels covering a broad spectrum of genetic disorders, from cardiovascular to dermatological diseases.

Exome Sequencing

If a targeted panel does not fully align with your research goals, the CDCapTM EXOM panel provides a broad screening option, typically covering >97% of protein-coding regions.

Design Your Own Panel with Ease

Should our standard or exome panels not meet your requirements, the CD Genomics Designer online tool allows you to create a fully customized panel.

Gene Expression Studies

Our RNA panels enable you to select from over 20,000 target genes to study fold-changes in gene expression—using inputs as low as 500 pg of fresh RNA or 10 ng of Formalin-Fixed Paraffin-Embedded (FFPE) RNA samples.

Aneuploidy Testing

Research in reproductive genomics is advancing at an unprecedented pace. With our rapid sequencing solutions, you can accelerate aneuploidy testing within your clinical laboratory.

FQA

Q1: How to Choose the Right Panel?

Q2: What are the sample requirements?

Q3: Do you provide bioinformatics analysis support?

Q4: Interested in customizing your own panel?

* For research purposes only, not intended for clinical diagnosis, treatment, or individual health assessments.

Explore Our Inherited Dsorder:

Cat. No.	Product Name	Brief Description
PNG001	CDCap™ Dystrophin Research Panel Kit	CDCap™ Dystrophin Panel detects pathogenic deep-intronic variants, SVs, CNV breakpoints & complex rearrangements in the DMD gene via hybridization capture NGS. For comprehensive analysis of blood/swab samples on Illumina platforms.
PNG002	CDCap™ Human Hemoglobin Gene Panel Kit	CDCap™ Hemoglobin Panel detects SNVs, Indels, SVs, complex rearrangements & regulatory variants across 160kb hemoglobin genes via hybridization capture NGS. Analyzes coding regions, BCL11A/KLF1/MYB regulators, and structural breakpoints in blood/swab samples (Illumina)."
PNG003	Human Mitochondrial DNA Genome Panel Kit	CDCap™/CDAmp™ mtDNA Panels enable full 16.5kb mitochondrial genome sequencing via hybrid capture or amplicon NGS. Detect SNVs, Indels, CNVs linked to degenerative/metabolic/heritable disorders and cancer in blood/swab samples.