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GSTZ1 Gene Tyrosinemia type 1B NGS Genetic DNA Test Details
Understanding GSTZ1 Gene and Tyrosinemia Type 1B NGS Genetic DNA Test
Tyrosinemia Type 1B is a genetic disorder that affects the body's ability to break down the amino acid tyrosine. This condition is caused by mutations in the GSTZ1 gene, which provides instructions for making an enzyme called glutathione S-transferase zeta 1.
The GSTZ1 gene is located on chromosome 14 and is responsible for encoding the GSTZ1 enzyme, which plays a crucial role in the detoxification of tyrosine. When the GSTZ1 gene is mutated, it results in the accumulation of toxic byproducts in the liver and kidneys, which can lead to liver failure, kidney dysfunction, and other life-threatening complications.
What are the Symptoms of Tyrosinemia Type 1B?
The symptoms of Tyrosinemia Type 1B can vary widely depending on the severity of the condition. Some common symptoms include:
- Jaundice
- Liver enlargement
- Abdominal pain
- Renal tubular dysfunction
- Developmental delay
- Neurological symptoms
How is Tyrosinemia Type 1B Diagnosed?
Diagnosing Tyrosinemia Type 1B can be challenging because the symptoms can be vague and non-specific. However, a definitive diagnosis can be made through a blood test that measures the level of succinylacetone, a toxic byproduct that accumulates when the GSTZ1 enzyme is deficient. Additionally, genetic testing can be performed to identify mutations in the GSTZ1 gene.
What is NGS Genetic DNA Test?
NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that can analyze millions of DNA fragments simultaneously. This technology has revolutionized the field of genetic testing, enabling the detection of a wide range of genetic mutations and variants.
NGS Genetic DNA Test for Tyrosinemia Type 1B involves sequencing the GSTZ1 gene to identify any mutations or variants that may be responsible for the condition. This test can provide a definitive diagnosis and inform treatment decisions.
What is the Cost of Tyrosinemia Type 1B NGS Genetic DNA Test?
The cost of Tyrosinemia Type 1B NGS Genetic DNA Test in India can vary depending on the testing facility and location. However, the average cost of this test is around INR 20,000.
Conclusion
Tyrosinemia Type 1B is a rare genetic disorder that can have serious health consequences if left untreated. Early diagnosis and treatment are crucial for managing the condition and preventing complications. NGS Genetic DNA Test is a powerful tool that can provide a definitive diagnosis and inform treatment decisions. If you suspect that you or your child may have Tyrosinemia Type 1B, it is important to speak with a healthcare provider and consider genetic testing.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for Tyrosinemia Type 1B. Our team of expert geneticists and counselors can provide personalized guidance and support throughout the testing process. Contact us today to learn more.
