Whole genome sequencing (WGS)
Whole genome sequencing (WGS) has revolutionized medical diagnostics, enabling a deeper understanding of health, disease mechanisms, and personalized medicine. WGS is a comprehensive method for analyzing the entire human genome sequence that provides extensive view of entire genetic makeup including both protein-coding (exonic) and non-coding regions (intronic). WGS has emerged as a powerful tool in the clinical field and is coveted as an ideal technology for identification and confirmation of both the large and small variants (SNP/INDEL/CNV/SV) that provides a basis to identify the root cause of the disease to arrive at accurate diagnosis or risk predictions.
Many studies have proved that the non-coding genetic variants play a significant role in the disease mechanism and it is well known that the coding regions account for only 1 to 2 % of the genome. In this scenario, WGS is a most powerful tool to be employed to identify the root cause of many rare diseases and complex disease conditions. Scalability and flexibility of the NGS technique made WGS as most demanding & potential test in the clinical diagnostics.
Potential uses of WGS in clinical diagnostics:
- Genetic Disorder Diagnosis: Identify genetic basis of inherited disorders, to aid accurate diagnosis and personalized
treatments. - Cancer Genomics: Understand genetic alterations in tumors and guide targeted therapies for better treatment outcomes.
- Pharmacogenomics: Determine how genetic variations influence drug response, to optimise medication choices.
- Rare Disease Diagnosis: Uncover genetic causes of rare diseases, to enable informed decisions and tailored care.
- Undiagnosed or Complex Diseases: Identify rare genetic variants for undiagnosed conditions, to improve treatment
management.
Sample Requirements
- Blood: 3-5 ml of blood in EDTA tubes
- DNA sample: 2-5 ug of high-quality DNA (260/280 ratio: 1.8 to 2.0)
- FFPE (Formalin-fixed Paraffin- Embedded) samples
- Saliva, Tissue
The General Workflow For Whole Genome Sequencing include;
- DNA isolation and Quality Check
- Library Preparation
- Sequencing
- Bioinformatics analysis
- Reporting
Methodology
- MLPA
TAT
- 2 Weeks
Need a free Consultation?
JUST MAKE AN APPOINTMENT & YOU'RE DONE!
