Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARL13B gene for Joubert syndrome type 8

PreTest Information

Clinical History of Patient who is going for ARL13B Gene Joubert syndrome type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARL13B Gene Joubert syndrome type 8

Detail Description

ARL13B Gene Joubert Syndrome Type 8 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Joubert Syndrome is a rare genetic disorder that affects the development of the brain. It is a type of ciliopathy, which means it is caused by abnormalities in the structure or function of cilia. Cilia are tiny hair-like structures that line the surface of cells and play a crucial role in cell signaling and communication.

There are several different types of Joubert Syndrome, each caused by mutations in different genes. One of these genes is ARL13B, which is associated with Joubert Syndrome Type 8. ARL13B is involved in the formation and function of cilia, and mutations in this gene disrupt normal ciliary function.

Symptoms of Joubert Syndrome Type 8

Symptoms of Joubert Syndrome Type 8 can vary widely between individuals, but may include:

• Abnormal eye movements
• Hypotonia (low muscle tone)
• Ataxia (difficulty with coordination and balance)
• Cognitive impairment
• Delayed speech and language development
• Abnormal breathing pattern

Not all individuals with Joubert Syndrome Type 8 will have all of these symptoms, and the severity of symptoms can vary as well.

Diagnosis of Joubert Syndrome Type 8

Diagnosis of Joubert Syndrome Type 8 typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Magnetic resonance imaging (MRI) of the brain can reveal characteristic abnormalities in the shape and structure of the brainstem and cerebellum that are indicative of Joubert Syndrome.

Genetic testing can confirm a diagnosis of Joubert Syndrome Type 8 by identifying mutations in the ARL13B gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing that can rapidly and accurately sequence large amounts of DNA. NGS testing for Joubert Syndrome Type 8 typically costs around INR 20,000.

Conclusion

Joubert Syndrome Type 8 is a rare genetic disorder caused by mutations in the ARL13B gene. Symptoms can include abnormal eye movements, low muscle tone, difficulty with coordination and balance, cognitive impairment, delayed speech and language development, and abnormal breathing pattern. Diagnosis typically involves clinical evaluation, imaging studies, and genetic testing using NGS technology. The cost of NGS testing for Joubert Syndrome Type 8 is around INR 20,000.

If you suspect that you or a loved one may have Joubert Syndrome Type 8, it is important to seek the advice of a medical professional. Genetic testing can provide a definitive diagnosis and help guide treatment and management options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS testing for Joubert Syndrome Type 8. Contact us today to learn more.