Short Description

NGS genetic DNA test detecets for variant and mutation detection in TCTN1 gene for Joubert syndrome type 13

PreTest Information

Clinical History of Patient who is going for TCTN1 Gene Joubert syndrome type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TCTN1 Gene Joubert syndrome type 13

Detail Description

TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Joubert Syndrome is a rare genetic disorder that affects the cerebellum, which is the part of the brain that controls balance and coordination. It is characterized by a distinctive brain malformation known as the "molar tooth sign" on brain imaging. Joubert Syndrome Type 13 (JBTS13) is caused by mutations in the TCTN1 gene. Here we will discuss the symptoms, diagnosis, and cost of the NGS Genetic DNA Test for TCTN1 Gene Joubert Syndrome Type 13.

Symptoms

The symptoms of Joubert Syndrome Type 13 can vary greatly from person to person. Some of the common symptoms include:

• Hypotonia (low muscle tone)
• Delayed milestones
• Ataxia (lack of muscle coordination)
• Abnormal breathing patterns
• Eye movement abnormalities
• Cognitive impairment
• Seizures

It is important to note that not all individuals with JBTS13 will exhibit all of these symptoms.

Diagnosis

The diagnosis of Joubert Syndrome Type 13 is typically made based on clinical findings, such as the presence of the molar tooth sign on brain imaging, and genetic testing. Genetic testing can identify mutations in the TCTN1 gene that are associated with JBTS13.

NGS Genetic DNA Test for TCTN1 Gene Joubert Syndrome Type 13

The NGS Genetic DNA Test for TCTN1 Gene Joubert Syndrome Type 13 is a genetic test that uses next-generation sequencing (NGS) technology to analyze the TCTN1 gene for mutations that are associated with JBTS13. This test can help confirm a diagnosis of JBTS13 and provide information about the genetic cause of the condition.

The cost of the NGS Genetic DNA Test for TCTN1 Gene Joubert Syndrome Type 13 in India is typically around INR 20,000. This cost may vary depending on the laboratory and specific testing methods used.

Conclusion

Joubert Syndrome Type 13 is a rare genetic disorder that can have a significant impact on individuals and families. The NGS Genetic DNA Test for TCTN1 Gene Joubert Syndrome Type 13 can help with diagnosis and provide important information about the genetic cause of the condition. If you suspect that you or a loved one may have JBTS13, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we provide reliable and accurate genetic testing services, including the NGS Genetic DNA Test for TCTN1 Gene Joubert Syndrome Type 13. Contact us today to learn more about our services and how we can help.

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 TCTN1 Gene Joubert syndrome type 13 NGS Genetic DNA Test