Short Description

NGS genetic DNA test detecets for variant and mutation detection in CSPP1 gene for Joubert syndrome type 21

PreTest Information

Clinical History of Patient who is going for CSPP1 Gene Joubert syndrome type 21 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CSPP1 Gene Joubert syndrome type 21

Detail Description

CSPP1 Gene Joubert Syndrome Type 21 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Joubert Syndrome Type 21 is a rare genetic disorder that affects brain development. It is caused by mutations in the CSPP1 gene, which provides instructions for making a protein called centrosome and spindle pole-associated protein 1. This protein is involved in the normal development and function of the brain.

Symptoms of Joubert Syndrome Type 21

The symptoms of Joubert Syndrome Type 21 can vary greatly from person to person. Some of the common symptoms include:

• Abnormal breathing patterns
• Abnormal eye movements
• Cerebellar vermis hypoplasia
• Delayed development of motor skills
• Intellectual disability
• Low muscle tone
• Seizures

It is important to note that not all individuals with Joubert Syndrome Type 21 will have all of these symptoms.

Diagnosis of Joubert Syndrome Type 21

The diagnosis of Joubert Syndrome Type 21 can be challenging. It is typically based on a combination of clinical features and genetic testing. Imaging studies, such as magnetic resonance imaging (MRI), may also be used to evaluate the brain structure.

Genetic testing is an important tool in the diagnosis of Joubert Syndrome Type 21. Next-generation sequencing (NGS) genetic DNA testing can be used to detect mutations in the CSPP1 gene. This test is available at DNA Labs India.

Cost of NGS Genetic DNA Test for Joubert Syndrome Type 21

The cost of the NGS genetic DNA test for Joubert Syndrome Type 21 at DNA Labs India is INR 20000. This test is performed using state-of-the-art technology and is highly accurate.

Conclusion

Joubert Syndrome Type 21 is a rare genetic disorder that can be challenging to diagnose. Genetic testing, such as NGS genetic DNA testing, can be an important tool in the diagnosis of this condition. The cost of the NGS genetic DNA test for Joubert Syndrome Type 21 at DNA Labs India is INR 20000. If you or a loved one is experiencing symptoms of Joubert Syndrome Type 21, it is important to seek medical attention and consider genetic testing.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services. Contact us today to learn more about our services and how we can help you.

Joubert syndrome is a rare genetic disorder that primarily affects the brain's development, leading to various neurological and physical abnormalities. It is characterized by a specific brain malformation known as the "molar tooth sign," which can be seen on brain imaging scans. There are multiple genetic mutations associated with different types of Joubert syndrome.