Short Description

NGS genetic DNA test detecets for variant and mutation detection in TAT gene for Tyrosinemia type 2

PreTest Information

Clinical History of Patient who is going for TAT Gene Tyrosinemia type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Tyrosinemia type 2

Detail Description

TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Genetic testing has become an essential tool in diagnosing and treating various genetic diseases. One such genetic disease is Tyrosinemia type 2, which is caused by a mutation in the TAT gene. In this article, we will discuss the symptoms, diagnosis, and cost of the TAT Gene Tyrosinemia type 2 NGS genetic DNA test.

What is Tyrosinemia Type 2?

Tyrosinemia type 2 is a rare genetic disorder that affects the breakdown and metabolism of the amino acid tyrosine. This disorder is caused by a mutation in the TAT gene, which encodes an enzyme called tyrosine aminotransferase. This enzyme is essential for the breakdown of tyrosine in the liver and the production of several important molecules, including melanin, adrenaline, and thyroid hormones.

Symptoms of Tyrosinemia Type 2

Tyrosinemia type 2 symptoms may vary from person to person, but some of the common symptoms are:

• Jaundice
• Fever
• Vomiting
• Abdominal pain
• Poor weight gain
• Developmental delay
• Enlarged liver and spleen
• Rickets

Diagnosis of Tyrosinemia Type 2

The diagnosis of tyrosinemia type 2 is usually made by measuring the levels of tyrosine and other amino acids in the blood. However, this test may not be specific enough to confirm the diagnosis. Therefore, genetic testing is recommended to confirm the diagnosis of tyrosinemia type 2. The TAT Gene Tyrosinemia type 2 NGS genetic DNA test is a reliable and accurate genetic test that can detect mutations in the TAT gene.

TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test

The TAT Gene Tyrosinemia type 2 NGS genetic DNA test is a Next-Generation Sequencing (NGS) test that can detect mutations in the TAT gene. This test is performed on a blood sample, and the results are usually available within 2-3 weeks.

Cost of TAT Gene Tyrosinemia Type 2 NGS Genetic DNA Test

The cost of the TAT Gene Tyrosinemia type 2 NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

Tyrosinemia type 2 is a rare genetic disorder that can have serious consequences if left untreated. The TAT Gene Tyrosinemia type 2 NGS genetic DNA test is a reliable and accurate test that can confirm the diagnosis of tyrosinemia type 2. If you or your child is experiencing any of the symptoms of tyrosinemia type 2, it is important to talk to a healthcare provider about genetic testing and treatment options.

At DNA Labs India, we provide a wide range of genetic testing services, including the TAT Gene Tyrosinemia type 2 NGS genetic DNA test. Our laboratory is equipped with the latest technology and staffed by highly trained professionals who are dedicated to providing accurate and timely test results. Contact us today to learn more about our genetic testing services.