Short Description

NGS genetic DNA test detecets for variant and mutation detection in ATR gene for Seckel syndrome type 1

PreTest Information

Clinical History of Patient who is going for ATR Gene Seckel syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATR Gene Seckel syndrome type 1 NGS Genetic DNA Test gene ATR

Detail Description

ATR Gene Seckel Syndrome Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

Seckel syndrome is a rare genetic disorder that affects growth and development, resulting in a small stature and small head size. There are several types of Seckel syndrome, and type 1 is caused by mutations in the ATR gene. ATR gene Seckel syndrome type 1 NGS Genetic DNA Test is a diagnostic tool that can help identify this condition.

Symptoms of Seckel Syndrome Type 1

The symptoms of Seckel syndrome type 1 can vary from person to person, but some common features include:

• Small head size (microcephaly)
• Small stature (dwarfism)
• Delayed growth and development
• Intellectual disability
• Abnormal facial features, such as a narrow face and beaked nose
• Small jaws (micrognathia)
• Large ears
• Eye abnormalities, such as crossed eyes (strabismus) and nearsightedness (myopia)

Diagnosis of Seckel Syndrome Type 1

Seckel syndrome type 1 is diagnosed through genetic testing, specifically through the ATR gene Seckel syndrome type 1 NGS Genetic DNA Test. This test involves analyzing a person's DNA to look for mutations in the ATR gene. The test can be performed on a blood or saliva sample.

If a person is suspected to have Seckel syndrome type 1 based on their symptoms, their doctor may recommend genetic testing to confirm the diagnosis. Genetic counseling may also be recommended to help the person and their family understand the implications of the diagnosis and the chances of passing the condition on to future children.

Cost of ATR Gene Seckel Syndrome Type 1 NGS Genetic DNA Test in India

The cost of the ATR gene Seckel syndrome type 1 NGS Genetic DNA Test in India can vary depending on the laboratory and location. On average, the cost is around INR 20,000. However, some laboratories may offer the test at a lower or higher cost.

Conclusion

The ATR gene Seckel syndrome type 1 NGS Genetic DNA Test is an important diagnostic tool for identifying Seckel syndrome type 1. If you or a loved one is experiencing symptoms of Seckel syndrome type 1, it is important to speak with a healthcare provider about the possibility of genetic testing. While the cost of the test may be a consideration, it is important to prioritize getting an accurate diagnosis and appropriate medical care.

At DNA Labs India, we offer a range of genetic testing services, including the ATR gene Seckel syndrome type 1 NGS Genetic DNA Test. Our team of experts is dedicated to providing accurate and reliable results to help guide medical decisions. Contact us today to learn more about our services.