Short Description

NGS genetic DNA test detecets for variant and mutation detection in UBR1 gene for Johanson Blizzard syndrome

PreTest Information

Clinical History of Patient who is going for UBR1 Gene Johanson Blizzard syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with UBR1 Gene Johanson Blizzard syndrome NGS Genetic DNA Test gene UBR1

Detail Description

UBR1 Gene Johanson Blizzard Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. Our team of experienced geneticists and technicians is dedicated to providing accurate and reliable genetic testing for a wide range of conditions, including Johanson Blizzard Syndrome.

What is Johanson Blizzard Syndrome?

Johanson Blizzard Syndrome is a rare genetic disorder that affects multiple parts of the body. It is caused by mutations in the UBR1 gene, which plays a role in the breakdown and removal of certain proteins from the body. This leads to the accumulation of these proteins, which can cause a variety of symptoms.

Symptoms of Johanson Blizzard Syndrome

The symptoms of Johanson Blizzard Syndrome can vary from person to person, but may include:

• Failure to thrive
• Developmental delay
• Short stature
• Abnormal facial features
• Hearing loss
• Recurrent infections
• Malformed teeth

Diagnosis of Johanson Blizzard Syndrome

Diagnosis of Johanson Blizzard Syndrome typically involves a physical exam, medical history review, and genetic testing. DNA Labs India offers NGS Genetic DNA Testing for Johanson Blizzard Syndrome. This test uses next-generation sequencing technology to analyze the UBR1 gene and identify any mutations that may be causing the condition.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for Johanson Blizzard Syndrome at DNA Labs India is INR 20,000. This includes the cost of sample collection, testing, and reporting. We offer competitive pricing and a fast turnaround time for all of our genetic testing services.

Why Choose DNA Labs India?

At DNA Labs India, we are committed to providing our customers with the highest quality genetic testing services. We use state-of-the-art technology and employ a team of experienced geneticists and technicians to ensure accurate and reliable results. We also offer competitive pricing, fast turnaround times, and exceptional customer service.

Conclusion

If you or someone you know is experiencing symptoms of Johanson Blizzard Syndrome, it is important to seek medical attention and consider genetic testing. DNA Labs India offers NGS Genetic DNA Testing for Johanson Blizzard Syndrome at an affordable cost of INR 20,000. Contact us today to learn more about our genetic testing services.