Short Description

NGS genetic DNA test detecets for variant and mutation detection in TCTN3 gene for Joubert syndrome type 18

PreTest Information

Clinical History of Patient who is going for TCTN3 Gene Joubert syndrome type 18 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TCTN3 Gene Joubert syndrome type 18

Detail Description

TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

Joubert syndrome is a rare genetic disorder that affects brain development and causes various symptoms, including abnormal breathing patterns, poor muscle tone, and developmental delays. There are several types of Joubert syndrome, each caused by different genetic mutations.

One of these genetic mutations is associated with Joubert syndrome type 18, which is caused by mutations in the TCTN3 gene. Testing for this gene mutation can help diagnose Joubert syndrome type 18, allowing for early intervention and treatment.

Symptoms of Joubert Syndrome Type 18

The symptoms of Joubert syndrome type 18 can vary from person to person, but common symptoms include:

• Abnormal breathing patterns
• Delayed development, including developmental delays in speech and motor skills
• Low muscle tone and poor coordination
• Abnormal eye movements
• Kidney and liver problems

Diagnosing Joubert Syndrome Type 18

Diagnosing Joubert syndrome type 18 requires genetic testing to identify mutations in the TCTN3 gene. This can be done through next-generation sequencing (NGS) technology, which allows for faster and more accurate DNA sequencing.

NGS genetic testing can be performed on a blood sample or other tissue sample. The sample is analyzed in a laboratory, and the results are reported to the patient's doctor.

The Cost of TCTN3 Gene Joubert Syndrome Type 18 NGS Genetic DNA Test

The cost of TCTN3 gene Joubert syndrome type 18 NGS genetic DNA testing can vary depending on several factors, including the laboratory performing the test, the location of the laboratory, and any insurance coverage the patient may have.

At DNA Labs India, the cost of TCTN3 gene Joubert syndrome type 18 NGS genetic DNA testing is INR 20,000. This cost includes the laboratory analysis and interpretation of the results.

Conclusion

Joubert syndrome type 18 is a rare genetic disorder that can cause a variety of symptoms, including abnormal breathing patterns, developmental delays, and poor muscle tone. Testing for the TCTN3 gene mutation associated with Joubert syndrome type 18 can help diagnose the condition early, allowing for earlier intervention and treatment.

If you or a loved one is experiencing symptoms of Joubert syndrome type 18, contact DNA Labs India to learn more about NGS genetic testing for the TCTN3 gene mutation and the cost of testing.

Remember, early diagnosis and treatment can help improve outcomes for those living with Joubert syndrome type 18.

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 TCTN3 Gene Joubert syndrome type 18 NGS Genetic DNA Test