Ophthalmic Panel Sequencing

Description of Ophthalmic Panel

Ophthalmic research panel is a predesigned panel for detecting mutations in genes which associated with eye diseases. This panel contains a total of 317 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.

Gene List of Ophthalmic Panel Sequencing

AASS ABCA1 ABCA3 ABCA4 ABHD12 ADAMTS10 ADAMTS17 ADAMTS6 ADAMTSL4 AFAP1
AGBL5 AGK AHI1 AIPL1 AKR1E2 ALDH18A1 ALMS1 ARHGEF12 ARHGEF18 ARL13B
ARL6 ASB10 ASPH AT1 ATF6 ATOH7 ATXN2 AURKA BBIP1 BBS1
BBS10 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BEST1 BFSP1 BFSP2
BMP4 C1QTNF5 C2ORF71 C8ORF37 CA4 CABP4 CACNA1F CAPN5 CBS CC2D2A
CCDC28B CDH3 CEP290 CERKL CFB CFH CHAT CHMP4B CLRN1 CNGA1

(Check the Ophthalmic Panel Sequencing Gene List for more genes.)

Highlights of Ophthalmic Panel Sequencing Service

  • Target-enrichment sequencing by Illumina provides ultra-deep sequencing to target specific genomic regions with lower costs.
  • High coverage over 99%.
  • SNVs, indels, and even low frequency variations can be detected.
  • Strict quality control throughout the pipeline workflow to ensure the accuracy and repeatability of the sequencing.
  • Fast turnaround time.

Applications of Ophthalmic Panel Sequencing

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

Service Specifications

Service Specifications

Sample Requirements

  • Sample types for genome DNA from tissues, whole blood, cultured cells, and formalin-fixed paraffin-embedded (FFPE) tissues.
  • Recommended amount: 3μg
  • Minimum amount: 1μg DNA
  • Collection: blood is collected by routine blood collection. DNA samples are stored in TE buffer or equivalent.
Service Specifications

Sequencing

  • Illumina PE150
  • Enrichment Method: Hybridization capture
  • More than 80% of bases with a ≥Q30 quality score
  • Recommended sequencing depth: ≥500x
Service Specifications

Bioinformatics Analysis

We provide customized bioinformatics analysis including:

  • Read alignment
  • Variant calling/Annotation

Gene Panel Workflow

CD Genomics provides the accurate and cost-effective ophthalmic panel sequencing and bioinformatics analysis. Our professional expert team executes quality management, following every procedure to ensure confident and unbiased results. The general workflow for ophthalmic panel sequencing is outlined below.

Gene Panel Workflow

For more information about the ophthalmic panel or need other amplification requirements, please contact us.

References:

  1. Shan S Z, et al. Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family. Ophthalmic Genetics, 2018. 39, 487-491.
  2. Xiu F H, et al.Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families. PLOS one, 2013. 8(5).
* For Research Use Only. Not for use in diagnostic procedures.

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  • 1-631-275-3058 (USA)
           44-208-144-6005 (Europe)
  • 1-631-614-7828
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