The Molecular Diagnostics Laboratory (Genome Lab), Department of Medical Genetics, JSS Medical College and Hospital, JSS Academy of Higher Education and Research, Mysuru, provides advanced molecular diagnostic and genomic testing services for clinical diagnosis, precision medicine, translational research, and academic investigations. The laboratory is equipped with state-of-the-art molecular biology, sequencing, cytogenetic, and bioinformatics platforms to support high-quality genetic analysis and comprehensive genomic profiling. All diagnostic procedures are performed using standardized protocols with emphasis on accuracy, quality assurance, reproducibility, and timely reporting.
Diagnostic Services Offered
| Service | Instrument | Applications | Turnaround Time (TAT) |
|---|---|---|---|
| Sanger Sequencing | SeqStudio Genetic Analyser | Mutation analysis, SNP detection, sequence validation, hereditary disease screening, and confirmation of NGS findings. | 4–6 Weeks |
| JAK2 (V617F) Mutation Testing | QuantStudio 5 Dx Real-Time PCR System | Detection of JAK2 mutations associated with myeloproliferative neoplasms including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. | 5–7 Working Days |
| Whole Exome Sequencing (WES) | Ion GeneStudio S5 Plus | Comprehensive genomic analysis for rare genetic disorders, inherited diseases, oncology, and precision medicine applications. | 6–8 Weeks |
Advanced Instrumentation Facilities
The Genome Lab houses advanced instrumentation facilities that support molecular diagnostics, genomic sequencing, cytogenetics, and translational research. The laboratory includes an Automated DNA Extraction Robot (Cambrian Bioworks – Manta) for rapid and high-quality nucleic acid isolation, enabling simultaneous processing of multiple samples with reduced hands-on time. The Fragment Analyzer FA5200 provides automated capillary electrophoresis for DNA, RNA, and protein quality assessment and plays an important role in next-generation sequencing library quality control.
The laboratory is equipped with the QuantStudio 5 Dx Real-Time PCR System for gene expression analysis, SNP genotyping, copy number variation studies, and clinical molecular diagnostics. The QX200 Droplet Digital PCR System enables highly sensitive absolute quantification of nucleic acids and rare mutation detection, supporting applications such as liquid biopsy and ctDNA analysis.
For sequencing applications, the SeqStudio Genetic Analyser supports Sanger sequencing and fragment analysis workflows, while the Ion Chef System and Ion GeneStudio S5 Plus Next-Generation Sequencer provide automated template preparation and semiconductor-based next-generation sequencing for hereditary disease testing, oncology panels, pharmacogenomics, and infectious disease surveillance.
The laboratory also houses the GeneChip System 3000Dx v.2 for high-resolution microarray analysis and the Zeiss Axio Imager Z2 Fluorescence Microscope for advanced cytogenetic and fluorescence in situ hybridisation (FISH) studies. These facilities collectively support comprehensive genomic diagnostics, clinical research, and academic training in medical genetics.
Research and Clinical Applications
The Genome Lab supports a wide range of diagnostic and research applications, including hereditary disease screening, cancer genomics, prenatal diagnosis, pharmacogenomics, rare disease identification, infectious disease surveillance, cytogenetic analysis, and translational biomedical research. The facility also provides technical support for postgraduate training, doctoral research, collaborative projects, and multidisciplinary clinical investigations.
