Short Description

NGS genetic DNA test detecets for variant and mutation detection in AHI1 gene for Joubert syndrome type 3

PreTest Information

Clinical History of Patient who is going for AHI1 Gene Joubert syndrome type 3 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AHI1 Gene Joubert syndrome type 3

Detail Description

AHI1 Gene Joubert Syndrome Type 3 NGS Genetic DNA Test Cost INR 20000 - Symptoms and Diagnosis

Joubert Syndrome Type 3 is a rare genetic disorder that affects the development of the brainstem and cerebellum. This disorder is caused by mutations in the AHI1 gene. DNA Labs India offers an NGS genetic DNA test for the AHI1 gene, which can be used to diagnose Joubert Syndrome Type 3.

Symptoms of Joubert Syndrome Type 3

Joubert Syndrome Type 3 is characterized by a range of symptoms, including:

• Hypotonia (low muscle tone)
• Ataxia (lack of muscle coordination)
• Abnormal eye movements
• Cognitive impairment
• Abnormal breathing patterns
• Abnormalities in the structure of the brainstem and cerebellum

The severity of these symptoms can vary widely between individuals with Joubert Syndrome Type 3.

Diagnosis of Joubert Syndrome Type 3

Diagnosis of Joubert Syndrome Type 3 typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The NGS genetic DNA test offered by DNA Labs India can be used to identify mutations in the AHI1 gene that are associated with Joubert Syndrome Type 3.

It is important to note that not all individuals with Joubert Syndrome Type 3 will have mutations in the AHI1 gene. In some cases, other genes may be responsible for the disorder.

NGS Genetic DNA Test Cost

The NGS genetic DNA test for the AHI1 gene is available from DNA Labs India for INR 20000. This test can be used to diagnose Joubert Syndrome Type 3 and other disorders that are associated with mutations in the AHI1 gene.

Conclusion

Joubert Syndrome Type 3 is a rare genetic disorder that can cause a range of symptoms, including hypotonia, ataxia, and abnormal eye movements. DNA Labs India offers an NGS genetic DNA test for the AHI1 gene, which can be used to diagnose this disorder. The cost of this test is INR 20000. If you suspect that you or a loved one may have Joubert Syndrome Type 3, speak with a healthcare provider to determine the best course of action.