Genetic Testing
What is Genetic Testing?
Genetic testing is a medical test that analyzes DNA to identify genetic mutations or variations that may cause or increase the risk of diseases. It helps diagnose genetic disorders, predict the likelihood of developing certain conditions, and guide treatment options.
Process of Genetic Testing
1. Sample Collection – A healthcare provider collects a sample of blood, saliva, or a tissue swab (cheek swab).
2. DNA Extraction – The DNA is isolated from the sample in a laboratory.
3. Gene Sequencing – The DNA is analyzed to identify mutations in specific genes linked to a disease (e.g., CAPN3 for LGMD2A).
4. Interpretation – Geneticists examine the results to determine if mutations are present.
5. Counseling & Reporting – A genetic counselor or doctor explains the findings and their implications for diagnosis, treatment, or family planning.
Cost of Genetic Testing
The cost varies depending on the country, type of test, and number of genes analyzed.
Pakistan: PKR 30,000 to PKR 100,000 (approx.)
USA/Europe: $200 to $5,000, depending on the complexity
Targeted Gene Testing: Less expensive (~$200–$500)
Whole-Exome or Whole-Genome Sequencing: Expensive (~$1,000–$5,000)
Some organizations and research initiatives may offer free or subsidized testing for rare diseases.
How Beneficial is Genetic Testing for Muscular Dystrophy?
Genetic testing is highly beneficial for Muscular Dystrophy (MD) in several ways:
1. Accurate Diagnosis – Confirms the type of MD (e.g., LGMD2A, Duchenne, Becker), preventing misdiagnosis.
2. Early Intervention – Helps plan physical therapy, medication, and lifestyle adjustments.
3. Personalized Treatment – Identifies potential eligibility for gene therapy or clinical trials.
4. Family Planning – Helps carriers understand the risk of passing MD to children.
5. Research & Advocacy – Supports genetic research and patient registries for potential future treatments.
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Genetic Testing DNA Analysis Mutation Detection Muscular Dystrophy Gene Sequencing Medical Research.- ← why Genetic testing is important for Muscular Dystrophy
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