Short Description

NGS genetic DNA test detecets for variant and mutation detection in OFD1 gene for Joubert syndrome type 10

PreTest Information

Clinical History of Patient who is going for OFD1 Gene Joubert syndrome type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with OFD1 Gene Joubert syndrome type 10

Detail Description

OFD1 Gene Joubert Syndrome Type 10 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

OFD1 gene is one of the genes that has been associated with Joubert Syndrome Type 10. Joubert Syndrome is a rare genetic disorder that affects the brainstem and cerebellum. It is estimated to affect 1 in 80,000-100,000 births. OFD1 gene mutations are responsible for about 10% of cases of Joubert Syndrome.

Symptoms of Joubert Syndrome Type 10

Joubert Syndrome Type 10 is characterized by the following symptoms:

• Hypotonia (low muscle tone)
• Ataxia (lack of coordination)
• Abnormal eye movements (ocular motor apraxia)
• Intellectual disability
• Cerebellar vermis hypoplasia (underdevelopment of the cerebellar vermis)

Diagnosis of Joubert Syndrome Type 10

Joubert Syndrome Type 10 can be diagnosed through genetic testing. Next Generation Sequencing (NGS) technology is used to identify mutations in the OFD1 gene. NGS is a high-throughput sequencing technology that can analyze multiple genes simultaneously. This technology allows for faster and more accurate diagnosis of genetic disorders.

Cost of OFD1 Gene Joubert Syndrome Type 10 NGS Genetic DNA Test

The cost of OFD1 Gene Joubert Syndrome Type 10 NGS Genetic DNA Test in India is INR 20000. The cost may vary depending on the testing facility and location.

Conclusion

Joubert Syndrome Type 10 is a rare genetic disorder that affects the brainstem and cerebellum. OFD1 gene mutations are responsible for about 10% of cases of Joubert Syndrome. NGS technology is used to identify mutations in the OFD1 gene. The cost of OFD1 Gene Joubert Syndrome Type 10 NGS Genetic DNA Test in India is INR 20000. Early diagnosis and intervention can improve the quality of life for individuals with Joubert Syndrome.

If you suspect that you or your child may have Joubert Syndrome Type 10, it is important to consult with a genetic counselor or a healthcare provider who specializes in genetic disorders. They can provide you with more information about the disorder, genetic testing, and treatment options.

At DNA Labs India, we offer a wide range of genetic testing services, including OFD1 Gene Joubert Syndrome Type 10 NGS Genetic DNA Test. Our team of experienced genetic counselors and healthcare professionals can help you understand your test results and provide you with personalized recommendations based on your unique situation. Contact us today to schedule an appointment.

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 OFD1 Gene Joubert syndrome type 10 NGS Genetic DNA Test