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.

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

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