Short Description

NGS genetic DNA test detecets for variant and mutation detection in HPSE2 gene for Urofacial syndrome type 1

PreTest Information

Clinical History of Patient who is going for HPSE2 Gene Urofacial syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HPSE2 Gene Urofacial syndrome type 1 NGS Genetic DNA Test gene HPSE2

Detail Description

HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Urofacial syndrome type 1 is a rare genetic disorder that affects the urinary and facial systems. It is caused by mutations in the HPSE2 gene, which codes for an enzyme that helps break down complex sugars. This disorder is characterized by urinary tract dysfunction, facial grimacing, and abnormal facial expressions. The symptoms of urofacial syndrome type 1 can be managed with medication and surgery, but there is no cure.

Diagnosis of Urofacial Syndrome Type 1

Urofacial syndrome type 1 can be diagnosed through genetic testing. The most common method of genetic testing is Next Generation Sequencing (NGS). NGS is a powerful tool that allows for the rapid and accurate sequencing of large amounts of DNA. This technology can be used to identify mutations in the HPSE2 gene that cause urofacial syndrome type 1.

Symptoms of Urofacial Syndrome Type 1

The symptoms of urofacial syndrome type 1 vary from person to person, but they typically include:

• Urinary tract dysfunction
• Facial grimacing
• Abnormal facial expressions
• Difficulty controlling facial expressions
• Recurrent urinary tract infections
• Kidney damage

Cost of HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test

The cost of HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test in India is INR:20000. This test is not typically covered by insurance, so it may be an out-of-pocket expense for patients.

Conclusion

Urofacial syndrome type 1 is a rare genetic disorder that affects the urinary and facial systems. It can be diagnosed through genetic testing, specifically Next Generation Sequencing (NGS). The symptoms of urofacial syndrome type 1 can be managed with medication and surgery, but there is no cure. The cost of HPSE2 Gene Urofacial Syndrome Type 1 NGS Genetic DNA Test in India is INR:20000.

If you suspect that you or a loved one may have urofacial syndrome type 1, it is important to speak with a healthcare provider. They can provide a proper diagnosis and help manage the symptoms of this rare disorder.