Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDE6D gene for Joubert syndrome type 22

PreTest Information

Clinical History of Patient who is going for PDE6D Gene Joubert syndrome type 22 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDE6D Gene Joubert syndrome type 22

Detail Description

PDE6D Gene Joubert Syndrome Type 22 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Joubert Syndrome is a rare genetic disorder that affects the development of the brainstem and cerebellum. It is caused by mutations in various genes that are involved in the development and function of these brain regions. One such gene is PDE6D, which is associated with Joubert Syndrome Type 22. DNA Labs India offers an NGS Genetic DNA Test for the PDE6D gene at a cost of INR 20000. Let's explore the symptoms and diagnosis of Joubert Syndrome Type 22 and how this test can help in its detection.

Symptoms of Joubert Syndrome Type 22

The symptoms of Joubert Syndrome Type 22 can vary widely between individuals, but some common features include:

• Hypotonia (low muscle tone) in infancy
• Delayed motor milestones
• Ataxia (lack of muscle coordination)
• Oculomotor apraxia (inability to control eye movements)
• Intellectual disability
• Abnormal breathing patterns
• Kidney abnormalities

It is important to note that not all individuals with Joubert Syndrome Type 22 will have all of these symptoms.

Diagnosis of Joubert Syndrome Type 22

The diagnosis of Joubert Syndrome Type 22 is based on clinical features and genetic testing. A thorough physical examination may reveal some of the characteristic features of the syndrome, such as hypotonia and ataxia. Imaging studies, such as an MRI of the brainstem and cerebellum, may also be used to aid in diagnosis.

Genetic testing is the most definitive way to diagnose Joubert Syndrome Type 22. The PDE6D gene is one of several genes that can be mutated in individuals with Joubert Syndrome, and testing for mutations in this gene can confirm a diagnosis of Joubert Syndrome Type 22.

NGS Genetic DNA Test for PDE6D Gene

DNA Labs India offers an NGS Genetic DNA Test for the PDE6D gene at a cost of INR 20000. This test uses next-generation sequencing technology to analyze the entire coding region of the PDE6D gene, as well as adjacent non-coding regions. It can detect all types of mutations, including point mutations, insertions, deletions, and copy number variations.

The NGS Genetic DNA Test for PDE6D gene is a highly accurate and sensitive test that can detect mutations with a detection rate of over 99%. It is a non-invasive test that requires only a small blood sample or cheek swab for analysis.

Conclusion

Joubert Syndrome Type 22 is a rare genetic disorder that can cause a wide range of symptoms, including hypotonia, ataxia, and intellectual disability. Genetic testing is the most definitive way to diagnose the condition, and DNA Labs India offers an NGS Genetic DNA Test for the PDE6D gene at a cost of INR 20000. This test is highly accurate and sensitive and can detect all types of mutations in the PDE6D gene, making it an invaluable tool for the diagnosis and management of Joubert Syndrome Type 22.

If you suspect that you or a loved one may have Joubert Syndrome Type 22, contact DNA Labs India today to learn more about our NGS Genetic DNA Test for the PDE6D gene.

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 PDE6D Gene Joubert syndrome type 22 NGS Genetic DNA Test