G-Mendeliome Disease-Specific Panel

Comprehensive analysis to Identify 17 disease in a single NGS reaction with proven clinical usage

Overview

17 Diseases in a Single NGS Reaction; G-Mendeliome Disease-specific Panel

Celemics’ G-Mendeliome disease-specific panels are designed to analyze genes in various inherited diseases including cardiology, neurology, and various cancers.

The panels were developed in collaboration with leading clinical laboratories with proven clinical usage. The panels support gene add-on services, allowing customers to expand the hybridization probes with genes of interest to fit their research needs. Additionally, we provide customized bioinformatics analysis services to customers through Celemics’ proprietary bioinformatics SW.
Disease Specific

Features & Benefits

Comprehensive Analysis of a Broad Range of diseases

The panel is capable of identifying diseases associated with: AML, ALL, Multiple Myeloma, Lymphoma, Hearing loss, Hereditary cancer syndrome, Arrhythmia, Cardiomyopathy, Muscular dystrophy, Charcot-Marie-Tooth, Spastic paraplegia, Myopathy, Ataxia, Epilepsy, Parkinson, Alzheimer, Dementia, and Dystonia.

Disease Specific

Designed & Developed in Collaboration with the Leading CRO in the Country

Celemics has collaborated with the leading CRO laboratory in country under the purpose of practical uses in diagnostic field. As a result, we were able to design and develop 17 different ‘disease-specific’ panels for assessing particular genes of the related diseases. 

During the process of development and commercialization, extensive in-house validation runs have proven high sensitivity (>95%) and specificity (>99.5%) for all selected genes pertaining to each panel. 

Disease Specific

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count* Ranges from 14 to 293 genes
Covered region Whole CDS, hotspots
Target size 37-1,159 kb
Mutation type SNV, Indel, CNV
Sample type Differs by somatic or germline panel
Platform All sequencers from Illumina, Thermo Fisher, MGI, PacBio, and Oxford Nanopore
Bioinformatics Support ① Primary Analysis: FASTQ to annotated VCF
② Secondary Analysis: CNV, Large InDel
③ Tertiary Analysis: Clinical interpretation

List of Panels for various diseases

The contained genes of each specific disease panel are shown in the table below. If the panel does not contains genes of interest, customers can add those genes through our additional service. Please contact us for more information.

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Resources

Technical Resources

[Product Sheet] G-Mendeliome Disease-Specific Panel

[Product Overview] Celemics Target Enrichment Panel Overview

[Catalogue] Celemics Products & Service Catalogue_All Products & Service

Safety Data Sheets

MSDS_G-Mendeliome Disease-Specific Panels_Illumina_Enzymeplus

MSDS_G-Mendeliome Disease-Specific Panels_Illumina

MSDS_G-Mendeliome Disease-Specific Panels_Thermo Fisher

MSDS_G-Mendeliome Disease-Specific Panels_MGI_EnzymePlus

MSDS_G-Mendeliome Disease-Specific Panels_MGI

References

BMC Medical Genomics

Clinical and Genetic Analyses and Treatment Experiences of Patients with Lateralized Overgrowth

Kim YM, Lee Y, Choi Y, Choi IH, Heo SH, Choi JM, et al. Clinical and genetic analyses of patients with lateralized overgrowth. BMC Med Genomics. 2022 Sep 30;15(1):206.

 

DOI 10.1186/s12920-022-01362-1


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J Atheroscler Thromb

Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020

Kim H, Lee CJ, Kim SH, Kim JY, Choi SH, Kang HJ, et al. Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020. J Atheroscler Thromb. 2022 Aug 1;29(8):1176–87.

 

DOI 10.5551/jat.63062


View Detail >

Yonsei Med J

Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery

Lee CJ, Choi B, Pak H, Park JM, Lee JH, Lee SH. Genetic Variants Associated with Adverse Events after Angiotensin-Converting Enzyme Inhibitor Use: Replication after GWAS-Based Discovery. Yonsei Med J. 2022 Apr;63(4):342–8.

 

DOI 10.3349/ymj.2022.63.4.342


View Detail >

Mol Syndromol

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Cinleti T, Yılmaz Uzman C, Akyol Ş, Tüfekçi Ö, Erçal MD, Giray Bozkaya Ö. Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct. Mol Syndromol. 2022 May;13(3):200–5.

 

DOI 10.1159/000519364


View Detail >