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G-Mendeliome Clinical Exome Sequencing Panel
Sensitive Detection of Variants with Clinically Significant Genetic Diseases
Overview
NGS 기반의 임상 진단 솔루션
Celemics’ G-Mendeliome Clinical Exome Sequencing (CES) 패널은 기존의 Whole Exome 시퀀싱의 단점을 커버하기 위해 디자인된 패널입니다. CES는 타겟 영역을 질병과 연관 있는 유전자들로 구성하여 빠르고 효율적으로 진단 검사에 사용하는 것에 초점을 두고 개발된 패널로 Whole Exome 시퀀싱 패널에 비해 컴팩트한 타겟 영역을 가지고 있어 관심 유전자를 비용 효율적으로 검사할 수 있습니다. 특히 G-Mendeliome CES 패널은 의학적으로 중요하다고 여겨져 시중의 다른 패널들에서도 널리 검사하는 유전자 뿐 아니라 추가적으로 유용한 정보를 포함하고 있는 유전자들도 모두 포함하고 있어 매우 포괄적인 정보를 얻을 수 있습니다.
Features & Benefits
다양한 유전 질환에 대한 유전자 프로파일링 가능
CES 패널은 7,000개 이상의 유전자라는 넓은 범위의 타겟 영역을 가지고 있습니다. 의학적으로 중요한 유전자들로 구성되어 있으며 특히 여타 시장의 다른 패널에서는 다루지 않는 유전자들도 다수 포함하고 있어 활용도 높은 패널입니다.
G-Mendeliome CES
Company A + Company B + over 70 genes
The CES Panel was developed to meet the needs of GC Genome,the largest clinical NGS service provider in South Korea,to solve the problems of poor diagnostic rates and high costs.
Company A
SORT1
GSTM1
SLC16A1
IL10
.
.
TNFRSF4
CASP9
MIR30C1
IL19
COL6A5
.
.
SCNN1D
PRDM16
TNFRSF9
LCK
ZNF419
.
.
Company B
CDK11B
AZIN2
INSRR
TTC7A
CAMK1
.
.
over
70 genes
Comparison data: ZNF419 gene
Comparison data: COL6A5 gene
- Through the in-house manufacturing and probe design system of Celemics, customers can request the sequencing of homolog regions as well as hare-to capture regions
- The comparison data showed obtained sequencing reads for ZNF419 and COL6A5 genes, which are commonly masked in other panels.
비용 효율적인 NGS 분석
Whole Exome보다 작은 타겟 영역을 가지고 있으나 의학적으로 중요한 유전자들을 두루 포함하도록 구성된 패널로 보다 낮은 비용으로 효율적인 시퀀싱을 할 수 있습니다. On-target Ratio, Uniformity 등 최고의 성능을 낼 수 있도록 디자인된 패널을 공급해 드립니다.
Other Features
유연한 패널 디자인
Gene Add-on 서비스로 타겟 영역을 추가하거나 완전한 맞춤형 패널을 만드실 수 있습니다.
다양한 수준의 분석 결과
CES Expanded 패널 이용자분들을 대상으로 추가 Clinical 리포트를 제공해 드립니다.
다양한 NGS 플랫폼 지원
Illumina, Thermo Fisher, MGI 장비에 최적화된 시약 및 프로토콜을 제공해 드립니다.
Specification
| Gene count* | 5,516 / 7,563 genes |
|---|---|
| Covered region | CDS, hotspots, Mitochondrial genome |
| Target size | 13.8 / 19.6 Mb |
| Mutation type | SNV, Indel, CNV |
| Sample type(amount) | Blood (> 50 ng of fragmented DNA) |
| 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 |
Specification - LIST OF DISEASES ASSESSED BY G-MENDELIOME CES PANEL
G-Mendeliome CES Target Diseases
G-Mendeliome CES panel contains around 7,000 disease-related genes as target regions. The related diseases are listed in the table below
01
02
01
| Category | Related Diseases |
|---|---|
| Cardiology | Aortopathy and connective tissue disorders |
| Arrhythmia | |
| Cardiomyopathy | |
| Congenital heart defect | |
| Dyslipidemia | |
| Other cardiovascular diseases | |
| Pulmonary hypertension | |
| Dermatology | Adams-Oliver syndrome |
| Albinism | |
| Cardiofaciocutaneous syndrome | |
| Cutis laxa | |
| Dyskeratosis congenita | |
| Ectodermal dysplasia | |
| Ehlers-Danlos syndrome | |
| Epidermolysis bullosa | |
| Hereditary acrodermatitis enteropathica | |
| Hermansky-Pudlak syndrome | |
| Hypotrichosis | |
| Ichthyosis | |
| Neurofibromatosis | |
| Pachyonychia congenita | |
| Palmoplantar keratoderma | |
| Progeria and Progeroid Syndromes | |
| Skin cancer | |
| Tuberous sclerosis | |
| Waardenburg syndrome | |
| Xeroderma pigmentosum | |
| Endocrinology | Adrenal hyperplasia |
| Diabetes | |
| Hyperinsulinism | |
| Hyperparathyroidism | |
| Hypothyroidism | |
| Kallmann syndrome | |
| Multiple endocrine neoplasia | |
| Obesity | |
| Pancreatitis | |
| Premature ovarian failure | |
| ENT | Hearing loss |
| GI/Hepatology | Cholestasis |
| Congenital diarrhea | |
| Congenital hepatic fibrosis | |
| Gastrointestinal atresia | |
| Hirschsprung disease | |
| Polycystic liver disease | |
| Hematology | Anemia |
| Bleeding&Thrombotic disorder | |
| Bone marrow failure | |
| Congenital neutropenia | |
| Hemochromatosis | |
| RBC membrane disorder | |
| Immunology | Antibody deficiencies |
| Autoinflammatory disorders | |
| Combined T/B cell deficiencies | |
| Complement deficiencies | |
| Defects in intrinsic and innate immunity | |
| Immune dysregulation | |
| Phagocytic defects |
02
| Metabolism | Aminoacidopathies |
|---|---|
| Carbohydrate disorders | |
| Congenital disorders of glycosylation | |
| Creatine biosynthesis disorders | |
| Fatty acid oxidation defects | |
| Lipodystrophy | |
| Lysosomal storage disorders | |
| Organic acidemias | |
| Peroxisomal disorders | |
| Porphyria | |
| Purine/Pyrimidine metabolism disorders | |
| Pyruvate metabolism and tricarboxylic acid cycle defects | |
| Urea cycle disorders | |
| Nephrology | Bartter syndrome |
| Ciliopathies | |
| Diabetes insipidus | |
| Hemolytic uremic syndrome | |
| Hypokalemia | |
| Hypomagnesemia | |
| Hypophosphatemic rickets | |
| Nephrolithiasis | |
| Nephrotic syndrome/Focal glomerulonephrosis | |
| Pseudohypoaldosteronism | |
| Renal malformation | |
| Renal tubular acidosis | |
| Neurology | Autism |
| Movement disorders | |
| Neurodegenerative disorders | |
| Neuromuscular disorders | |
| Neuropathies and related disorders | |
| Seizures and Brain abnormalities | |
| Oncology | Breast and gynecological cancer |
| Colorectal cancer | |
| Endocrine cancer | |
| Gastrointestinal cancer | |
| Hematologic malignancy | |
| Lung cancer | |
| Nervous system/brain cancer | |
| Pancreatic cancer | |
| Prostate cancer | |
| Renal cancer | |
| Sarcoma | |
| Skin cancer | |
| Ophthalmology | Albinism |
| Cataract/Ectopia lentis | |
| Corneal dystrophy | |
| Glaucoma | |
| Microphthalmia/Anophthalmia | |
| Nystagmus | |
| Ophthalmoplegia/Oculomotor apraxia | |
| Optic atrophy | |
| Retinal dystrophy | |
| Retinoblastoma | |
| Pulmonology | Bronchiectasis |
| Central hypoventilation/Apnea | |
| Cystic fibrosis | |
| Cystic lung disease | |
| Hermansky-Pudlak syndrome | |
| Interstitial lung disease | |
| Primary ciliary dyskinesia | |
| Surfactant dysfunction | |
| Skeletal disorders | Amelogenesis imperfecta |
| Arthrogryposes | |
| Cleft lip palate | |
| Craniosynostosis | |
| Exostosis | |
| Facial dysostosis | |
| Macrocephaly/Overgrowth syndrome | |
| Osteopetrosis | |
| Short stature syndrome | |
| Skeletal dysplasia |
Specification
| Gene count* | 5,508 / 7,513 genes |
|---|---|
| Covered region | CDS, hotspots, Mitochondrial genome |
| Target size | 13.8 / 19.6 Mb |
| Mutation type | SNV, Indel, CNV |
| Sample type(amount) | Blood (> 50 ng of fragmented DNA) |
| 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 |
Specification - LIST OF DISEASES ASSESSED BY G-MENDELIOME CES PANEL
G-Mendeliome CES Target Diseases
G-Mendeliome CES panel contains around 7,000 disease-related genes as target regions. The related diseases are listed in the table below
01
02
01
| Category | Related Diseases |
|---|---|
| Cardiology | Aortopathy and connective tissue disorders |
| Arrhythmia | |
| Cardiomyopathy | |
| Congenital heart defect | |
| Dyslipidemia | |
| Other cardiovascular diseases | |
| Pulmonary hypertension | |
| Dermatology | Adams-Oliver syndrome |
| Albinism | |
| Cardiofaciocutaneous syndrome | |
| Cutis laxa | |
| Dyskeratosis congenita | |
| Ectodermal dysplasia | |
| Ehlers-Danlos syndrome | |
| Epidermolysis bullosa | |
| Hereditary acrodermatitis enteropathica | |
| Hermansky-Pudlak syndrome | |
| Hypotrichosis | |
| Ichthyosis | |
| Neurofibromatosis | |
| Pachyonychia congenita | |
| Palmoplantar keratoderma | |
| Progeria and Progeroid Syndromes | |
| Skin cancer | |
| Tuberous sclerosis | |
| Waardenburg syndrome | |
| Xeroderma pigmentosum | |
| Endocrinology | Adrenal hyperplasia |
| Diabetes | |
| Hyperinsulinism | |
| Hyperparathyroidism | |
| Hypothyroidism | |
| Kallmann syndrome | |
| Multiple endocrine neoplasia | |
| Obesity | |
| Pancreatitis | |
| Premature ovarian failure | |
| ENT | Hearing loss |
| GI/Hepatology | Cholestasis |
| Congenital diarrhea | |
| Congenital hepatic fibrosis | |
| Gastrointestinal atresia | |
| Hirschsprung disease | |
| Polycystic liver disease | |
| Hematology | Anemia |
| Bleeding&Thrombotic disorder | |
| Bone marrow failure | |
| Congenital neutropenia | |
| Hemochromatosis | |
| RBC membrane disorder | |
| Immunology | Antibody deficiencies |
| Autoinflammatory disorders | |
| Combined T/B cell deficiencies | |
| Complement deficiencies | |
| Defects in intrinsic and innate immunity | |
| Immune dysregulation | |
| Phagocytic defects |
02
| Metabolism | Aminoacidopathies |
|---|---|
| Carbohydrate disorders | |
| Congenital disorders of glycosylation | |
| Creatine biosynthesis disorders | |
| Fatty acid oxidation defects | |
| Lipodystrophy | |
| Lysosomal storage disorders | |
| Organic acidemias | |
| Peroxisomal disorders | |
| Porphyria | |
| Purine/Pyrimidine metabolism disorders | |
| Pyruvate metabolism and tricarboxylic acid cycle defects | |
| Urea cycle disorders | |
| Nephrology | Bartter syndrome |
| Ciliopathies | |
| Diabetes insipidus | |
| Hemolytic uremic syndrome | |
| Hypokalemia | |
| Hypomagnesemia | |
| Hypophosphatemic rickets | |
| Nephrolithiasis | |
| Nephrotic syndrome/Focal glomerulonephrosis | |
| Pseudohypoaldosteronism | |
| Renal malformation | |
| Renal tubular acidosis | |
| Neurology | Autism |
| Movement disorders | |
| Neurodegenerative disorders | |
| Neuromuscular disorders | |
| Neuropathies and related disorders | |
| Seizures and Brain abnormalities | |
| Oncology | Breast and gynecological cancer |
| Colorectal cancer | |
| Endocrine cancer | |
| Gastrointestinal cancer | |
| Hematologic malignancy | |
| Lung cancer | |
| Nervous system/brain cancer | |
| Pancreatic cancer | |
| Prostate cancer | |
| Renal cancer | |
| Sarcoma | |
| Skin cancer | |
| Ophthalmology | Albinism |
| Cataract/Ectopia lentis | |
| Corneal dystrophy | |
| Glaucoma | |
| Microphthalmia/Anophthalmia | |
| Nystagmus | |
| Ophthalmoplegia/Oculomotor apraxia | |
| Optic atrophy | |
| Retinal dystrophy | |
| Retinoblastoma | |
| Pulmonology | Bronchiectasis |
| Central hypoventilation/Apnea | |
| Cystic fibrosis | |
| Cystic lung disease | |
| Hermansky-Pudlak syndrome | |
| Interstitial lung disease | |
| Primary ciliary dyskinesia | |
| Surfactant dysfunction | |
| Skeletal disorders | Amelogenesis imperfecta |
| Arthrogryposes | |
| Cleft lip palate | |
| Craniosynostosis | |
| Exostosis | |
| Facial dysostosis | |
| Macrocephaly/Overgrowth syndrome | |
| Osteopetrosis | |
| Short stature syndrome | |
| Skeletal dysplasia |
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Resources
Technical Resources
Safety Data Sheets
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MSDS_G-Mendeliome Clinical Exome Panels_Illumina
MSDS_G-Mendeliome Clinical Exome Panels_Thermo Fisher
MSDS_G-Mendeliome Clinical Exome Panels_MGI