Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM216 gene for Joubert syndrome type 2

PreTest Information

Clinical History of Patient who is going for TMEM216 Gene Joubert syndrome type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM216 Gene Joubert syndrome type 2

Detail Description

TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Joubert Syndrome is a rare genetic disorder that affects the brain's development. It is characterized by a malformation of the cerebellar vermis, a structure located in the hindbrain that plays a role in coordinating movements. Joubert Syndrome can cause a range of symptoms, including breathing problems, developmental delays, and abnormal eye movements. The condition is caused by mutations in several genes, including the TMEM216 gene.

The TMEM216 gene provides instructions for making a protein that is involved in the formation and function of cilia. Cilia are microscopic, hair-like structures that protrude from the surface of cells and play a role in cell signaling and movement. Mutations in the TMEM216 gene can disrupt cilia function, leading to the development of Joubert Syndrome.

NGS Genetic DNA Test for TMEM216 Gene Joubert Syndrome Type 2

DNA Labs India offers a Next-Generation Sequencing (NGS) genetic DNA test for TMEM216 Gene Joubert Syndrome Type 2. This test uses cutting-edge technology to analyze the patient's DNA and detect mutations in the TMEM216 gene. The test is highly accurate and can detect mutations that traditional genetic tests may miss. The NGS Genetic DNA Test for TMEM216 Gene Joubert Syndrome Type 2 costs INR 20000.

Symptoms of Joubert Syndrome

• Abnormal breathing patterns
• Delayed development milestones, such as sitting up or walking
• Low muscle tone
• Coordination and balance problems
• Abnormal eye movements
• Kidney abnormalities
• Cleft lip or palate
• Seizures
• Intellectual disability

Diagnosis of Joubert Syndrome

Diagnosis of Joubert Syndrome typically involves a physical examination, medical history review, and genetic testing. The NGS Genetic DNA Test for TMEM216 Gene Joubert Syndrome Type 2 offered by DNA Labs India can help confirm a diagnosis of Joubert Syndrome.

Conclusion

If you or your child is experiencing symptoms of Joubert Syndrome, it is important to seek medical attention and consider genetic testing. DNA Labs India offers affordable and accurate genetic testing services, including the NGS Genetic DNA Test for TMEM216 Gene Joubert Syndrome Type 2. Contact us today to learn more.

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 TMEM216 Gene Joubert syndrome type 2 NGS Genetic DNA Test