Comprehensive Neuropathies Panel

Comprehensive neuropathies panel covers 141 genes that can be detected, mainly involving 6 diseases, namely amyotrophic lateral sclerosis, spinocerebellar ataxia, dystonia, congenital myasthenic syndrome, Alzheimer's disease and Parkinson's disease. These genes are collected according to cutting-edge literatures. CD Genomics has extensive experience in targeting NGS sequencing and the Illumina MiSeq system to ensure the accuracy of your genetic variation detection.

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 (CNV) 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

Research on the mechanism of neurological diseases
Biomarker discovery
Therapeutic target discovery

Drug target discovery
Discover rare mutations and detect low frequency mutations

Type of Diseases Involved

Amyotrophic Lateral Sclerosis
Spinocerebellar Ataxia
Dystonia

Congenital Myasthenic Syndrome
Alzheimer's Disease
Parkinson's Disease

(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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