Short Description

NGS genetic DNA test detecets for variant and mutation detection in INPP5E gene for Joubert syndrome type 1

PreTest Information

Clinical History of Patient who is going for INPP5E Gene Joubert syndrome type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with INPP5E Gene Joubert syndrome type 1

Detail Description

INPP5E Gene and Joubert Syndrome Type 1: Symptoms, Diagnosis and DNA Testing Costs in India

Joubert Syndrome Type 1 (JBTS1) is a rare genetic disorder that affects the development of the brainstem and cerebellum, resulting in a range of neurological symptoms. Researchers have identified mutations in the INPP5E gene as a common cause of JBTS1. INPP5E is involved in the regulation of a cellular signaling pathway that is critical for brain development, and mutations in this gene can disrupt this pathway, leading to the symptoms of JBTS1.

Symptoms of Joubert Syndrome Type 1

The symptoms of JBTS1 can vary widely, but typically include:

• Hypotonia (low muscle tone)
• Ataxia (uncoordinated movements)
• Abnormal breathing patterns
• Eye movement abnormalities (such as nystagmus or strabismus)
• Cognitive impairment
• Delayed development of motor skills
• Abnormalities of the fingers and toes (such as polydactyly or syndactyly)

These symptoms can be present at birth, or may become apparent in early childhood. The severity of symptoms can also vary widely, even among individuals with the same genetic mutation.

Diagnosis of Joubert Syndrome Type 1

Diagnosis of JBTS1 typically involves a combination of clinical evaluation, imaging studies, and genetic testing. Neurological and developmental assessments can help identify the characteristic symptoms of JBTS1, while brain imaging studies (such as MRI or CT scans) can reveal abnormalities in the brainstem and cerebellum.

Genetic testing is also an important tool for diagnosis, as mutations in the INPP5E gene are a common cause of JBTS1. Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations, and can be used to screen for mutations in the INPP5E gene. This type of testing can be performed on a blood or saliva sample, and typically takes several weeks to produce results.

DNA Testing Costs in India

The cost of DNA testing in India can vary depending on the specific test being performed and the laboratory conducting the test. For NGS-based testing of the INPP5E gene, costs can range from INR 20,000 to INR 30,000 or more. It is important to choose a reputable laboratory with experience in genetic testing, and to discuss any concerns about cost with the laboratory before proceeding with testing.

Conclusion

Joubert Syndrome Type 1 is a rare genetic disorder that can cause a range of neurological symptoms. Mutations in the INPP5E gene are a common cause of JBTS1, and genetic testing can be an important tool for diagnosis. NGS-based testing of the INPP5E gene typically costs between INR 20,000 and INR 30,000 in India. If you or a loved one are experiencing symptoms of JBTS1, it is important to seek medical evaluation and consider genetic testing to help guide diagnosis and treatment.

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 INPP5E Gene Joubert syndrome type 1 NGS Genetic DNA Test