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G-Mendeliome Disease-Specific Panel

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

Overview
Features & Benefits
Specification
Related Products
Resources
References
Overview
Features & Benefits
Specification
Related Products
Resources
References

Overview

G-Mendeliome Disease-specific 패널을 통해 최대 17개 유전 질환에 대한 검사를 한 번에 수행할 수 있습니다

Celemics’ G-Mendeliome Disease-specific 패널은 Cardiology, Neurology, Cancer 등 다양한 분야의 17개 유전질환에 연관 있는 유전자들을 검사하기 위한 개별 패널을 모은 것입니다. 

유수의 수탁검사기관과의 협업으로 활용도 높도록 개발하였으며, Gene Add-on 서비스를 통해 원하는 유전자를 추가하여 연구자들 개개인의 연구 목적에 맞춰 보다 폭넓게 사용할 수 있습니다. BI 분석 서비스를 통해 손쉽게 분석 결과를 받을 수 있습니다.

Disease Specific

Features & Benefits

다양한 유전 질환 관련 유전자 포함

본 패널을 다음과 같은 유전 질환과 연관 있는 것으로 알려진 유전자들을 포함하고 있습니다.: 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, 및 Dystonia.

Disease Specific

유수의 수탁검사기관과의 협업으로 개발

본 패널들은 진단에 활용하기 위한 목적으로 국내 유수의 수탁검사기관과 협업하여 개발하였습니다. 총 17개 유전 질환에 대한 연관 유전자들을 검사하기 위한 패널로 내부 테스트에서 95% 이상의 민감도와 99.5% 이상의 특이도를 보인 우수한 패널을 공급합니다. 

Disease Specific

Specification

*Gene Add-On Service: Genes can be added by customer’s request.
Gene count* 61 - 321 genes
Covered region Whole CDS, hotspots
Target size 109 - 1,173 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

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[Product Overview] Celemics Target Enrichment Panel Overview

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[Catalogue] Celemics Products & Service Catalogue_All Products & Service

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Safety Data Sheets

MSDS_G-Mendeliome Disease-Specific Panels_Illumina_Enzymeplus

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MSDS_G-Mendeliome Disease-Specific Panels_Illumina

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MSDS_G-Mendeliome Disease-Specific Panels_Thermo Fisher

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MSDS_G-Mendeliome Disease-Specific Panels_MGI_EnzymePlus

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MSDS_G-Mendeliome Disease-Specific Panels_MGI

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References

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

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

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


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

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


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

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


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