Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM237 gene for Joubert syndrome type 14

PreTest Information

Clinical History of Patient who is going for TMEM237 Gene Joubert syndrome type 14 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM237 Gene Joubert syndrome type 14

Detail Description

TMEM237 Gene and Joubert Syndrome Type 14: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Joubert syndrome is a rare genetic disorder that affects brain development. It is characterized by a distinctive brain malformation called the "molar tooth sign" on brain imaging. Joubert syndrome can cause a variety of symptoms that vary widely in severity and can affect many different parts of the body.

There are several different genetic mutations that can cause Joubert syndrome, and one of these mutations is in the TMEM237 gene. This gene is responsible for producing a protein that is involved in the development and maintenance of cilia, which are tiny hair-like structures that help cells move and communicate with each other. When the TMEM237 gene is mutated, cilia do not function properly, which can cause the symptoms of Joubert syndrome.

Symptoms of Joubert Syndrome Type 14

The symptoms of Joubert syndrome can vary widely from person to person, even among those with the same genetic mutation. Some of the most common symptoms of Joubert syndrome type 14 include:

• Low muscle tone (hypotonia)
• Abnormal breathing patterns (such as rapid breathing followed by apnea)
• Developmental delays, including delays in sitting, standing, and walking
• Ataxia (uncoordinated movements)
• Nystagmus (involuntary eye movements)
• Cognitive impairment (ranging from mild to severe)
• Seizures (which may be difficult to control with medication)
• Other neurological symptoms, such as abnormal eye movements, hearing loss, or abnormal reflexes

Diagnosis of Joubert Syndrome Type 14

Diagnosing Joubert syndrome can be challenging, as the symptoms can be quite variable and may not be present in all affected individuals. In addition to a physical exam and medical history, doctors may use a variety of tests to diagnose Joubert syndrome type 14, including:

• Brain imaging (such as an MRI) to look for the characteristic "molar tooth sign"
• Genetic testing to look for mutations in the TMEM237 gene or other genes known to cause Joubert syndrome
• Eye exams to look for nystagmus or other eye abnormalities
• Hearing tests to look for hearing loss
• Developmental assessments to evaluate cognitive and motor skills

NGS Genetic DNA Test Cost in India

NGS (Next-Generation Sequencing) genetic DNA testing is a powerful tool for diagnosing genetic disorders like Joubert syndrome. This test involves sequencing the entire genome or specific genes to look for mutations that may be causing the patient's symptoms. In India, the cost of NGS genetic DNA testing can vary depending on the laboratory and the specific test being performed. On average, the cost of an NGS genetic DNA test for Joubert syndrome type 14 in India is around INR 20,000.

It is important to note that NGS genetic DNA testing may not be covered by insurance, and some laboratories may charge additional fees for genetic counseling or interpretation of the test results. Patients and their families should discuss the costs and potential benefits of genetic testing with their healthcare provider before proceeding with the test.

Conclusion

Joubert syndrome type 14 is a rare genetic disorder that can cause a wide range of symptoms, including low muscle tone, abnormal breathing patterns, developmental delays, ataxia, and seizures. Diagnosis of Joubert syndrome can be challenging, but genetic testing, including NGS genetic DNA testing, can be a powerful tool for identifying the underlying genetic mutation. In India, the cost of NGS genetic DNA testing for Joubert syndrome type 14 is around INR 20,000. Patients and their families should discuss the potential benefits and costs of genetic testing with their healthcare provider before proceeding with the test.

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 TMEM237 Gene Joubert syndrome type 14 NGS Genetic DNA Test