Short Description

NGS genetic DNA test detecets for variant and mutation detection in NPHP1 gene for Joubert syndrome type 4

PreTest Information

Clinical History of Patient who is going for NPHP1 Gene Joubert syndrome type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NPHP1 Gene Joubert syndrome type 4

Detail Description

NPHP1 Gene Joubert Syndrome Type 4 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Joubert Syndrome Type 4 is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls balance and coordination. It is caused by mutations in the NPHP1 gene. People with Joubert Syndrome Type 4 may have a variety of symptoms including:

• Abnormal eye movements
• Hypotonia (low muscle tone)
• Ataxia (lack of coordination)
• Mental retardation
• Abnormal breathing pattern
• Kidney abnormalities

If you or someone you know is showing these symptoms, it is important to get a proper diagnosis. DNA Labs India offers NGS Genetic DNA Test that can help diagnose Joubert Syndrome Type 4 and other genetic disorders. The NGS Genetic DNA Test is a comprehensive test that analyzes the entire DNA sequence for mutations and abnormalities. This test is highly accurate and can help identify the specific mutation in the NPHP1 gene that causes Joubert Syndrome Type 4.

The cost of the NGS Genetic DNA Test at DNA Labs India is INR 20000. This is an affordable price for such a comprehensive test. The test is performed using state-of-the-art technology and is analyzed by highly trained professionals. The results of the test are confidential and will only be shared with the individual who was tested or their authorized representative.

If you suspect that you or someone you know may have Joubert Syndrome Type 4 or another genetic disorder, it is important to get a proper diagnosis. The NGS Genetic DNA Test offered by DNA Labs India is an excellent option for anyone who wants to know more about their genetic makeup and identify any potential issues. Contact DNA Labs India today to learn more about the NGS Genetic DNA Test and how it can help you.

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 NPHP1 Gene Joubert syndrome type 4 NGS Genetic DNA Test