• Services
• Predesigned NGS Panel
• Inherited Disease Panel

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

• Medical Exome Panel
• Inherited Heart Disease Panel Sequencing
• Whole Exome Sequencing
• Mitochondrial Diseases Panel Sequencing
• Ophthalmic Panel Sequencing

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.

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