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

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.

Sequencing

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

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:

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.
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.