G-Mendeliome Clinical Exome Sequencing Panel
Sensitive Detection of Variants with Clinically Significant Genetic Diseases
Overview
Proven NGS-based Clinical Diagnostics Solutions
Celemics’ G-Mendeliome Clinical Exome Sequencing (CES) Panel is designed to overcome the limitations of analyzing clinical diseases with conventional whole-exome sequencing. The CES panels aim to only include clinically significant regions specifically related to inherited diseases.
Because of its compact size compared to the whole exome panel, the CES panel can be used to rapidly and efficiently detect disease-causing genetic variations within target genes in the human genome. The G-Mendeliome CES Panel includes both clinically significant genes used in other panels and other additional genes, therefore allowing customers to obtain comprehensive information of mutations in genes of interest in a cost-effective manner.

Comprehensive Genomic Profiling of a Variety of Genetic Diseases
CES panel includes wide range of 7,000 genes associated with clinically significant genetic diseases, even including all clinically significant regions that are not covered by competitors panels.
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.
Cost-effective NGS Analysis
Along with extensive range of target regions, our CES panel provides the most cost-effective NGS solution by selectively analyzing clinically significant targets; it is designed to provide accurate analysis with reduced sequencing costs compared to whole exome sequencing yet still demonstrate market leading on-target ratio and uniformity

Other Features

Easy Customization and Gene Add-on Services
Gene add-on service for additional target analysis or complete customization available

Different Tiers of Analysis Service Available
Additional clinical report service also available for CES expanded panel

Flexible Integration on Various Sequencing Platform
Compatible with various sequencer; facilitated by Celemics’ chemistry optimization and blocking oligo design technology
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
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 |
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
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 |
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
[Product Sheet] Celemics Clinical Exome Sequencing Panel
Celemics Target Enrichment Panel Overview
Celemics Products & Service
Safety Data Sheets
If you require the latest MSDS file, please contact us via ‘Contact Us‘.
MSDS_G-Mendeliome Clinical Exome Panels_Illumina_Enzymeplus
MSDS_G-Mendeliome Clinical Exome Panels_Illumina
MSDS_G-Mendeliome Clinical Exome Panels_Thermo Fisher
MSDS_G-Mendeliome Clinical Exome Panels_MGI_EnzymePlus
MSDS_G-Mendeliome Clinical Exome Panels_MGI