Short Description

NGS genetic DNA test detecets for variant and mutation detection in HPRT1 gene for Lesch-Nyham syndrome

PreTest Information

Clinical History of Patient who is going for HPRT1 Gene Lesch-Nyham syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HPRT1 Gene Lesch-Nyham syndrome

Detail Description

HPRT1 Gene Lesch-Nyham syndrome NGS Genetic DNA Test cost INR:20000 symptoms diagnosis - DNA Labs India

Lesch-Nyham syndrome is a rare genetic disorder that affects the HPRT1 gene. This gene is responsible for producing an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is involved in the recycling of purines, which are building blocks of DNA and RNA. A deficiency in HPRT leads to the accumulation of uric acid in the body, which can cause a range of symptoms.

Symptoms

The symptoms of Lesch-Nyham syndrome can vary in severity and may include:

• Self-injurious behavior, such as biting or head-banging
• Gout
• Arthritis
• Spasticity
• Intellectual disability
• Behavioral problems
• Kidney stones

Diagnosis

Diagnosis of Lesch-Nyham syndrome involves a blood test to measure the levels of HPRT enzyme activity. Genetic testing can also be done to confirm the presence of mutations in the HPRT1 gene. Prenatal testing is also available for couples who have a family history of the condition.

NGS Genetic DNA Test Cost

DNA Labs India offers NGS Genetic DNA Test for HPRT1 Gene Lesch-Nyham syndrome at a cost of INR 20,000.

Conclusion

Lesch-Nyham syndrome is a rare genetic disorder that can cause a range of symptoms. If you suspect that you or a loved one may have this condition, it's important to seek medical advice. DNA Labs India offers NGS Genetic DNA Test for HPRT1 Gene Lesch-Nyham syndrome at an affordable cost, making it easier for individuals to get an accurate diagnosis.

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 HPRT1 Gene Lesch-Nyham syndrome NGS Genetic DNA Test