Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM231 gene for Joubert syndrome type 20

PreTest Information

Clinical History of Patient who is going for TMEM231 Gene Joubert syndrome type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM231 Gene Joubert syndrome type 20

Detail Description

TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test Cost INR 20000: Symptoms, Diagnosis

Have you heard of Joubert Syndrome Type 20? It is a rare genetic disorder caused by mutations in the TMEM231 gene. This syndrome affects the development of the cerebellum and brainstem, leading to a range of symptoms that can vary from person to person. In this blog, we will discuss the symptoms, diagnosis, and cost of the TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test.

Symptoms of Joubert Syndrome Type 20

The symptoms of Joubert Syndrome Type 20 can vary from person to person. Some common symptoms include:

• Abnormal breathing patterns
• Abnormal eye movements
• Lack of muscle coordination (ataxia)
• Intellectual disability
• Abnormal skeletal development

These symptoms can range from mild to severe and may become apparent in infancy or early childhood.

Diagnosis of Joubert Syndrome Type 20

Diagnosis of Joubert Syndrome Type 20 is typically done through genetic testing. The TMEM231 gene is analyzed for mutations using Next-Generation Sequencing (NGS) technology. This test can identify mutations in the gene that are responsible for the syndrome. A genetic counselor can help individuals and families understand the results of the test and what they mean for the patient's health.

Cost of TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test

The cost of the TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the testing laboratory and the location of the patient.

Conclusion

Joubert Syndrome Type 20 is a rare genetic disorder that affects the development of the cerebellum and brainstem. Symptoms can vary from person to person and may become apparent in infancy or early childhood. Genetic testing using NGS technology can identify mutations in the TMEM231 gene responsible for the syndrome. The cost of the TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Test in India is around INR 20,000. Early diagnosis and treatment can help manage the symptoms of the syndrome and improve the patient's quality of life.

At DNA Labs India, we provide TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic DNA Testing services. Our team of experts can help you understand the results of the test and provide personalized counseling and support. Contact us today to learn more.

Meta Description:

Learn about Joubert Syndrome Type 20 and the TMEM231 Gene NGS Genetic DNA Test. Discover the symptoms, diagnosis, and cost of this rare genetic disorder. DNA Labs India provides testing services for TMEM231 Gene Joubert Syndrome Type 20 in India.

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 TMEM231 Gene Joubert syndrome type 20 NGS Genetic DNA Test