Short Description

NGS genetic DNA test detecets for variant and mutation detection in ESCO2 gene for SC Phocomelia syndrome

PreTest Information

Clinical History of Patient who is going for ESCO2 Gene SC Phocomelia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ESCO2 Gene SC Phocomelia syndrome NGS Genetic DNA Test gene ESCO2

Detail Description

DNA Labs India: ESCO2 Gene SC Phocomelia Syndrome NGS Genetic DNA Test

Phocomelia is a rare congenital disorder where the limbs of the individual are either absent or underdeveloped. ESCO2 gene mutations have been identified as one of the primary causes of SC Phocomelia syndrome. DNA Labs India offers NGS Genetic DNA testing for the identification of this gene mutation. This blog will discuss the symptoms, diagnosis, and cost of this test.

Symptoms of SC Phocomelia Syndrome

The symptoms of SC Phocomelia Syndrome include:

• Absent or underdeveloped limbs
• Abnormal facial features
• Delayed growth and development
• Intellectual disability
• Heart defects

These symptoms can vary in severity from person to person.

Diagnosis

Diagnosis of SC Phocomelia Syndrome can be done through genetic testing. DNA Labs India offers NGS Genetic DNA testing for the identification of ESCO2 gene mutations. This test can provide accurate and reliable results, allowing for proper diagnosis and treatment planning.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for ESCO2 gene mutations at DNA Labs India is INR 20,000. This cost includes sample collection, testing, and analysis. The test results will be provided within a reasonable timeframe, allowing for prompt diagnosis and treatment planning.

Conclusion

SC Phocomelia Syndrome is a rare congenital disorder that can have significant impacts on an individual's life. Early diagnosis through genetic testing can provide accurate and reliable results, allowing for proper treatment planning. DNA Labs India offers NGS Genetic DNA testing for ESCO2 gene mutations at an affordable cost, making it accessible to those who need it. Contact DNA Labs India today to schedule your test and take the first step towards a better future.