Blood Borne Infectious Disease
tuberculosis

3H-Q Realtime PCR Kits

Accurate differentiation between Mycobacterium tuberculosis (MTB) and Non-Tuberculous Mycobacteria (NTM) — enabling precise diagnosis and appropriate treatment decisions.

Overview


3H-Q Real Time PCR Kit Panel is designed to detect different germline mutations by screening nearly 21,500 clinically relevant genes (coding regions) and mitochondrial genome. G2M WES panel’s automation-friendly workflow enables identification of significant SNV, InDels and CNV spanning a target region of 38.2 Mb. The panel covers mutations from all the widely used major databases (ClinVar, OMIM, 1000 Genomes, gnomAD, dbSNP). Genes 2Me Whole Exome Sequencing (WES) Panel is designed to detect different germline mutations by screening nearly 21,500 clinically relevant genes (coding regions) and mitochondrial genome.

Whole Exome

M WES panel’s automation-friendly workflow enables identification of significant SNV, InDels and CNV spanning a target region of 38.2 Mb. The panel covers mutations from all the widely used major databases (ClinVar, OMIM, 1000 Genomes, gnomAD, dbSNP). Genes 2Me Whole Exome Sequencing (WES) Panel is designed to detect different germline mutations by screening nearly 21,500 clinically relevant genes (coding regions) and mitochondrial genome. G2M WES panel’s automation-friendly workflow enables identification of significant SNV, InDels and CNV spanning a target region of 38.2 Mb. The panel covers mutations from all the widely used major databases (ClinVar, OMIM, 1000 Genomes, gnomAD, dbSNP).

IVD RT-PCR Testing

KNOW THE GENES THAT
CODE YOU

List of Diseases category assessed by PML-RARA Real Time PCR Kit*
Disease Class List Of Diseases
Cardiac disorders Dyslipidemia, Aortopathy, Congenital heart defect, cardiovascular diseases
Dermatological disorders Ectodermal dysplasia, Albinism, Xeroderma pigmentosum, Ichthyosis
Endocrinological disorders Pancreatitis, Premature ovarian failure, Adrenal hyperplasia, Hyperparathyroidism
Bone disorders Arthrogryposis, Osteopetrosis, Cleft lip palate, Amelogenesis imperfecta
Immunological disorders Immune dysregulation, Defects in intrinsic and innate immunity
Hepatological disorders Polycystic liver disease, Cholestasis, Congenital hepatic fibrosis
Hematological disorders Bleeding & Thrombotic disorder, Bone marrow failure, Anemia
Metabolic disorders Aminoacidopathies, Purine/Pyrimidine disorders, Creatine biosynthesis disorders
Eye disorders Ectopia lentis, Retinoblastoma, Corneal dystrophy, Optic atrophy
Pulmonological disorders Bronchiectasis, Cystic fibrosis, Primary ciliary dyskinesia
Neurological disorders Neuromuscular disorders, Autism, Seizures & Brain abnormalities, Neurodegenerative disorders
Oncological disorders Hematological malignancy, Brain cancer, Colorectal cancer, Breast cancer, Ovarian cancer
PML-RARA Real Time PCR Kit?
Unclear Diagnosis: When a patient’s symptoms do not lead to a definitive diagnosis or phenotype of a suspected genetic disorder.
Delayed Diagnosis Impacting Quality of Life: If a delayed or uncertain diagnosis could significantly affect the patient’s quality of life, WES may help expedite the process..
Ineffective Stepwise Diagnostics: In cases where a step-by-step diagnostic approach would be time-consuming and costly, WES can be a more efficient alternative.
Lack of Plausible Diagnosis: When a physician is unable to propose a clear diagnosis based on the symptoms, WES can help uncover underlying genetic causes.
No Other Diagnostic Options: When no other available diagnostic techniques can confirm the condition or end the diagnostic odyssey, WES might provide the answers needed

Panel Performance

Features Illumina MGI Thermofisher
Coverage uniformity 96% 96% 87%
Precision 94% 94% 87%
Reproducibility 97% 97% 93%
Sensitivity 94% 94% 87%
On Target Ratio 85-95% 85-95% 80-85%

Performance comparison of NA12878 and samples with Neurofibromatosis

  • A comparison of performance of samples with Neurofibromatosis along with NA12878
    was performed.
  • 5 clinical samples showing Neurofibromatosis phenotype were included.
  • Concordance of data was observed when Q30 score and on target ratio was compared.
IVD RT-PCR Testing

Performance comparison of NA12878 and samples with Noonan Syndrome

IVD RT-PCR Testing
  • The (Proven) WES panel is the evaluated in previously chartesised sample with Noonan Syndrome(NS).
  • We have taken 5 samples with NS phenotype and analyzed the performance.
  • Performance statics of the sample is below

Comparison of Whole Exome Panel genes mapping across some of the major
databases.

  • We compared % of genes from G2M WES panel that match with major databases like
    OMIM, ClinVar and HPO.
  • The panel shows more that 90% mapping with all the three databases, indicating that the panels are scientifically up to date.
IVD RT-PCR Testing

Key features and benefits

Easy to use
Easy-to-use

Manage runs, analyze, store and share data in a centralized environment with no command line interface (CLI) or specialized coding skills required.

Simplified run planning
Simplified run planning

Reduce manual touchpoints; instrument integration automatically streams sequencing data to the cloud and kicks off analysis.

Real-time analytics
Real-time analytics

Access run data anywhere, anytime. Cloud-based application improves access and simplifies operations with real-time monitoring.

Sharing and collaboration
Sharing and collaboration

Collaborate easily with secure, audit-controlled data management and sharing without requiring file downloads.

Push-button analysis
Push-button analysis

Accelerate analysis with a curated and intuitive app menu, including award-winning DRAGEN secondary analysis applications.

Data storage
Data storage

Scale storage up or down as needed—no IT support required. Supports long-term data archiving and optimized savings.

Ordering Information
Commercial Name Cat No.
Clinical Exome Sequencing Expanded Panel (Whole Exome Sequencing) G2MCES07001(WES)-ill
Clinical Exome Sequencing Expanded Panel (Whole Exome Sequencing) GMCES07001(WES)-MG
Clinical Exome Sequencing Expanded Panel (Whole Exome Sequencing) G2MCES07001(WES)-TF

Resources


Download useful documents and technical information for the HCV-Q RT-PCR Kit.

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