Short Description

NGS genetic DNA test detecets for variant and mutation detection in HPD gene for Hawkinsinuria

PreTest Information

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

Detail Description

HPD Gene Hawkinsinuria NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Hawkinsinuria is a rare genetic disorder that affects the metabolism of an amino acid called tyrosine. It is caused by mutations in the HPD gene, which provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is involved in the breakdown of tyrosine, and mutations in the HPD gene can lead to a buildup of tyrosine and its byproducts in the body.

The symptoms of Hawkinsinuria can vary widely, but may include developmental delays, intellectual disability, seizures, and liver and kidney problems. Diagnosis is typically made through a combination of clinical evaluation, laboratory testing, and genetic testing.

NGS (next-generation sequencing) genetic DNA testing is a powerful tool for identifying mutations in the HPD gene that may be responsible for Hawkinsinuria. This test involves sequencing the entire HPD gene to look for changes or variations that may be associated with the disorder. The cost of NGS genetic DNA testing for Hawkinsinuria at DNA Labs India is INR 20,000.

NGS genetic DNA testing for Hawkinsinuria is a highly specialized test that requires expertise in genetic analysis and interpretation. At DNA Labs India, our team of experienced geneticists and technicians use state-of-the-art equipment and techniques to provide accurate and reliable results.

If you suspect that you or a loved one may have Hawkinsinuria, it is important to seek medical attention and undergo testing as soon as possible. Early diagnosis and treatment can help to manage symptoms and improve outcomes.

In addition to Hawkinsinuria, DNA Labs India offers a wide range of genetic testing services for a variety of conditions and disorders. Contact us today to learn more about our services and how we can help you.