Short Description

NGS genetic DNA test detecets for variant and mutation detection in RPGRIP1L gene for Joubert syndrome type 7

PreTest Information

Clinical History of Patient who is going for RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPGRIP1L Gene Joubert syndrome type 7

Detail Description

Understanding RPGRIP1L Gene and Joubert Syndrome Type 7: NGS Genetic DNA Test Cost INR 20,000, Symptoms, and Diagnosis

RPGRIP1L Gene is a crucial gene that plays a vital role in the development of the human body. Any mutations or defects in this gene can lead to various disorders, including Joubert Syndrome Type 7. Joubert Syndrome Type 7 is a rare genetic disorder that affects the brain's development, leading to severe neurological and physical disabilities. The disorder is caused by mutations in the RPGRIP1L Gene.

Symptoms of Joubert Syndrome Type 7

The symptoms of Joubert Syndrome Type 7 usually appear in early childhood. The severity of the symptoms can vary from mild to severe. Some common symptoms of the disorder include:

• Abnormal breathing pattern
• Developmental delay
• Low muscle tone
• Cerebellar ataxia (loss of coordination and balance)
• Visual impairment
• Kidney abnormalities
• Speech difficulties
• Abnormal eye movements

Diagnosis of Joubert Syndrome Type 7

Diagnosing Joubert Syndrome Type 7 can be challenging as the symptoms can be similar to other neurological disorders. However, genetic testing can help in confirming the diagnosis. The NGS Genetic DNA Test is the most effective test for detecting mutations in the RPGRIP1L Gene. This test can help in early diagnosis and proper treatment of the disorder.

NGS Genetic DNA Test Cost INR 20,000

The cost of the NGS Genetic DNA Test for Joubert Syndrome Type 7 in India is around INR 20,000. The test involves analyzing the DNA samples for mutations in the RPGRIP1L Gene. The test is highly accurate and can provide results in a few weeks.

Conclusion

Joubert Syndrome Type 7 is a rare genetic disorder caused by mutations in the RPGRIP1L Gene. The disorder can lead to severe neurological and physical disabilities. Early diagnosis and treatment can help in managing the symptoms and improving the quality of life of the affected individuals. The NGS Genetic DNA Test is an effective tool for diagnosing Joubert Syndrome Type 7, and the cost of the test in India is around INR 20,000.

At DNA Labs India, we offer NGS Genetic DNA Testing services for Joubert Syndrome Type 7 and other genetic disorders. Our team of experts uses the latest technology and equipment to provide accurate and reliable results. Contact us today to learn more about our services.

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 RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic DNA Test