Short Description

NGS genetic DNA test detecets for variant and mutation detection in CFAP53 gene for Heterotaxy, visceral type 6

PreTest Information

Clinical History of Patient who is going for CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic DNA Test gene CFAP53

Detail Description

CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test

CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test is a genetic test that helps in the diagnosis of a rare genetic disorder called Heterotaxy Syndrome. Heterotaxy Syndrome is a condition where the organs in the body are not properly arranged. This test is performed on the CFAP53 gene, which is responsible for the proper formation of the cilia in the body. Cilia are tiny hair-like structures that are present in the body and help in the movement of fluids and other substances.

Symptoms of Heterotaxy Syndrome

The symptoms of Heterotaxy Syndrome can vary from person to person. Some of the common symptoms include:

• Abnormal arrangement of organs
• Abnormal heart rhythm
• Difficulty breathing
• Poor growth
• Recurrent infections
• Developmental delays

Diagnosis of Heterotaxy Syndrome

The diagnosis of Heterotaxy Syndrome is usually made by a combination of physical examination, medical history, and imaging tests. These tests may include:

• X-rays
• Ultrasound
• CT scan
• MRI scan
• Echocardiogram

If the above tests are inconclusive, then a genetic test like the CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test can be performed to confirm the diagnosis.

Cost of CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test

The cost of the CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the location and the laboratory where the test is performed.

Conclusion

The CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test is a valuable tool for the diagnosis of Heterotaxy Syndrome. If you or your loved one is experiencing symptoms of this rare disorder, it is important to consult with a healthcare professional and discuss the possibility of genetic testing.

At DNA Labs India, we offer a wide range of genetic tests including the CFAP53 Gene Heterotaxy, Visceral Type 6 NGS Genetic DNA Test. Our team of experienced professionals is dedicated to providing accurate and reliable genetic testing services to our clients. Contact us today to learn more about our services.