Short Description

Targeted mutation Analysis (more than 2 mutations) is performed using Sanger Sequencing methodology. Sample that have to be given is Peripheral blood/ Plasma/ Serum/ Amniotic fluid / Cord Blood/Chorionic villi in EDTA Vacutainer (2ml)/ Sterile Container for this test. You can expect results in 10-15 days

PreTest Information

Targeted mutation Analysis (more than 2 mutations) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Targeted Mutation Analysis: A Comprehensive Diagnostic Tool for Genetic Disorders

Genetic disorders are caused due to mutations in the DNA sequence of an individual. Targeted mutation analysis is a diagnostic tool used to detect the presence of specific mutations in the DNA. It is a highly specific and sensitive technique that allows for the identification of multiple mutations in a single gene. DNA Labs India provides targeted mutation analysis for more than two mutations at a cost of INR 19500. Let’s take a closer look at targeted mutation analysis, its benefits, symptoms, and diagnosis.

What is Targeted Mutation Analysis?

Targeted mutation analysis is a molecular diagnostic technique that detects the presence of specific mutations in the DNA of an individual. It is a highly specific and sensitive technique that allows for the identification of multiple mutations in a single gene. Targeted mutation analysis can be performed on a variety of sample types, including blood, saliva, and tissue samples.

Benefits of Targeted Mutation Analysis

Targeted mutation analysis is a powerful diagnostic tool that offers several benefits:

• Highly specific: Targeted mutation analysis can detect specific mutations in the DNA sequence with high accuracy.
• Highly sensitive: Targeted mutation analysis can detect mutations even when they are present in small quantities.
• Quick turnaround time: Targeted mutation analysis can be performed quickly, allowing for faster diagnosis and treatment.
• Cost-effective: Targeted mutation analysis is a cost-effective diagnostic tool compared to other molecular diagnostic techniques.

Symptoms of Genetic Disorders

The symptoms of genetic disorders can vary widely depending on the specific disorder and the severity of the mutation. Some common symptoms of genetic disorders include:

• Developmental delays
• Intellectual disability
• Abnormal physical features
• Seizures
• Behavioral problems
• Chronic illness

Diagnosis of Genetic Disorders

Diagnosis of genetic disorders typically involves a combination of clinical evaluation, family history, and laboratory testing. Targeted mutation analysis is one of the most powerful laboratory diagnostic tools available for detecting genetic disorders. Other laboratory tests used for the diagnosis of genetic disorders include:

• Chromosomal analysis
• Gene sequencing
• Microarray analysis

Conclusion

Targeted mutation analysis is a powerful diagnostic tool that can detect specific mutations in the DNA sequence of an individual. It is highly specific, sensitive, and cost-effective, making it an ideal tool for the diagnosis of genetic disorders. DNA Labs India offers targeted mutation analysis for more than two mutations at a cost of INR 19500. If you suspect that you or someone you know may have a genetic disorder, consult a healthcare professional for evaluation and testing.

For more information on targeted mutation analysis and other molecular diagnostic techniques, please contact DNA Labs India.