Inherited Disease Panel

Inquiry

As a sequencing company with extensive experience, CDG has targeted sequencing technology with targeted enrichment strategies, which can provide you with genetic disease screening, neonatal genetic diseases screening, and skeleton system disease panel. These services are pre-designed groups that help researchers more efficiently and accurately detect genetic mutations associated with a variety of genetic diseases.

Features and Advantages

Target-enrichment sequencing by Illumina MiSeq provides extremely high depth (average depth > 100x).
Achieve high coverage uniformity on all targets.
Requires as little as 100ng input DNA.
Point mutations, indels, copy number variations (CNVs) and rearrangements can be detected.
The target regions contain all exons, UTRs, and relevant intron regions.
Every detected genetic variant will be further validated to ensure the validity of results.
Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
Fast turnaround time.

Applications

Inherited diseases related mechanism studies
Biomarker discovery
Therapeutic target discovery
Drug target discovery
Discover rare mutations and detect low frequency mutations

We Can Provide:

Genetic Disease Screening
Neonatal Genetic Diseases Screening
Skeleton System Disease Panel

Please submit the information and then download the gene list.

Our Inherited Disease Panels

Workflow

Sample Submission Guide

Specimen: Extracted DNA.
Sample purity (OD₂₆₀ / ₂₈₀): 1.8-2.0.
Recommended amount: > 1 μg, > 20 ng / μL.
Minimum amount: 100 ng
Collection: DNA samples are stored in TE buffer or equivalent.

Deliverables

Raw sequencing data (FASTQ). Mutation discovery and related data analysis can be delivered on request.

Not meeting your needs? Click here to customize your exclusive panel.

* For Research Use Only. Not for use in diagnostic procedures.