08/09/2025
Genetic Test:
1. Objective
To detect changes in chromosomes, genes, or proteins to diagnose inherited disorders, identify genetic risk factors, or guide treatment.
2. Principle
Genetic tests work by analyzing DNA or RNA from a patient’s sample. Techniques like PCR (Polymerase Chain Reaction), DNA sequencing, FISH (Fluorescence in situ Hybridization), or microarray detect mutations, deletions, duplications, or chromosomal abnormalities.
3. Materials
Patient sample (blood, saliva, buccal swab, amniotic fluid, or tissue)
DNA extraction kit
PCR machine / Sequencer
Primers, probes, enzymes
Electrophoresis unit (for gel-based detection)
Computer software for bioinformatics analysis
4. Procedure
1. Collect patient sample (blood/saliva/tissue).
2. Extract DNA/RNA.
3. Amplify target genes (using PCR or other methods).
4. Analyze using sequencing, microarray, or FISH.
5. Interpret data with bioinformatics tools.
5. Result
Normal → No mutation/abnormality detected.
Abnormal → Presence of mutation, deletion, duplication, or chromosomal disorder.
Can be qualitative (mutation present/absent) or quantitative (gene expression level).
6. Uses
Diagnosis of inherited diseases (e.g., cystic fibrosis, thalassemia).
Cancer risk detection (e.g., BRCA1/BRCA2 in breast cancer).
Pharmacogenomics (drug response prediction).
Prenatal diagnosis.
Forensic investigations.
7. Conclusion
Genetic testing is a powerful diagnostic and predictive tool that helps in early detection, prevention, and personalized treatment of diseases by analyzing variations in genetic material.
