Comprehensive Ophthalmic Research Panel

Ophthalmic research panel is a predesigned panel for detecting mutations in genes which associated with eye diseases. This panel contains a total of xx genes. CD Genomics utilizes targeted NGS sequencing technology to provide more efficient and accurate targeting of specific genes or mutations, and even to detect low frequency variations. Targeted NGS sequencing facilitates sequencing of a large number of genes and samples in a single and cost-effective assay.

Features and Advantages

Target-enrichment sequencing by Illumina MiSeq provides extremely high depth (average depth > 100x) and unparalleled coverage uniformity.
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

Eye disease mechanism research
Biomarker discovery
Therapeutic target discovery
Drug target discovery
Discover rare mutations and detect low frequency mutations

Type of Diseases Involved

Achromatopsia
Bardet-Biedl Syndrome
Cataract
Ectopia Lentis

Glaucoma
High Myopia
Leber Congenital Amaurosis

Macular Degeneration
Retinitis Pigmentosa
Vitreoretinopathy

(Please submit the information and then download the gene list.)

Sample Submission Guide

Specimen: Extracted DNA.
Sample purity (OD_{260 / 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.

Workflow

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

Online Inquiry

SUITE 111, 17 Ramsey Road, Shirley, NY 11967, USA
1-631-338-8059
1-631-614-7828
info@cd-genomics.com

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