Short Description

NGS genetic DNA test detecets for variant and mutation detection in HPD gene for Tyrosinemia type 3

PreTest Information

Clinical History of Patient who is going for HPD Gene Tyrosinemia type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Tyrosinemia type 3

Detail Description

HPD Gene Tyrosinemia Type 3 NGS Genetic DNA Test - Cost, Symptoms, and Diagnosis

HPD Gene Tyrosinemia Type 3 is a rare genetic disorder that affects the body's ability to break down the amino acid tyrosine. This disorder is caused by mutations in the HPD gene, which provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is essential for the breakdown of tyrosine in the body.

Symptoms of HPD Gene Tyrosinemia Type 3

The symptoms of HPD Gene Tyrosinemia Type 3 can vary depending on the severity of the condition. Some common symptoms include:

• Developmental delays
• Intellectual disability
• Liver problems
• Jaundice
• Seizures
• Abnormal muscle tone
• Behavioral problems

It's important to note that not all people with HPD Gene Tyrosinemia Type 3 will have all of these symptoms, and symptoms can range from mild to severe.

Diagnosis of HPD Gene Tyrosinemia Type 3

The diagnosis of HPD Gene Tyrosinemia Type 3 is usually made through genetic testing. This can be done through a blood sample or a saliva sample. The test looks for mutations in the HPD gene that are associated with the condition.

If a person is suspected of having HPD Gene Tyrosinemia Type 3, they may also undergo additional testing to check for liver damage or other complications associated with the condition.

NGS Genetic DNA Test for HPD Gene Tyrosinemia Type 3

The NGS Genetic DNA test for HPD Gene Tyrosinemia Type 3 is a comprehensive genetic test that uses next-generation sequencing technology to identify mutations in the HPD gene. This test is highly accurate and can detect even rare mutations that may be missed by other types of genetic testing.

The cost of the NGS Genetic DNA Test for HPD Gene Tyrosinemia Type 3 in India is around INR 20,000. This cost may vary depending on the testing facility and any additional testing that may be required.

Conclusion

HPD Gene Tyrosinemia Type 3 is a rare genetic disorder that can cause a range of symptoms, including developmental delays, intellectual disability, liver problems, and seizures. Diagnosis is usually made through genetic testing, and the NGS Genetic DNA test is a highly accurate and comprehensive test for this condition. The cost of the test in India is around INR 20,000.

If you or someone you know is experiencing symptoms of HPD Gene Tyrosinemia Type 3, it's important to speak with a doctor or genetic counselor for more information and guidance.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for HPD Gene Tyrosinemia type 3 NGS Genetic DNA Test