Short Description

NGS genetic DNA test detecets for variant and mutation detection in TMEM67 gene for Joubert syndrome type 6

PreTest Information

Clinical History of Patient who is going for TMEM67 Gene Joubert syndrome type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM67 Gene Joubert syndrome type 6

Detail Description

TMEM67 Gene and Joubert Syndrome Type 6: Understanding the Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Joubert syndrome is a rare genetic disorder that affects the development of the cerebellum. It is characterized by a distinctive brain malformation, called the "molar tooth sign," and a range of symptoms that vary in severity and can affect multiple organ systems. Joubert syndrome is caused by mutations in one of several genes, including the TMEM67 gene. In this blog post, we will focus on Joubert syndrome type 6 and the TMEM67 gene, including symptoms, diagnosis, and the cost of NGS genetic DNA testing in India.

What is Joubert Syndrome Type 6?

Joubert syndrome type 6 is a subtype of Joubert syndrome caused by mutations in the TMEM67 gene. This gene provides instructions for making a protein called meckelin, which is essential for the development and function of the primary cilium. The primary cilium is a tiny, hair-like structure that protrudes from the surface of cells and plays a crucial role in signaling pathways that regulate cell growth and division, as well as the development of organs and tissues.

Individuals with Joubert syndrome type 6 typically have a milder form of the disorder, with fewer and less severe symptoms than other subtypes. However, the specific symptoms can vary widely and may include:

• Delayed development of motor skills
• Hypotonia (low muscle tone)
• Ataxia (uncoordinated movements)
• Cognitive impairment or developmental delay
• Abnormal eye movements (nystagmus)
• Abnormal breathing patterns (apnea or hyperpnea)
• Kidney abnormalities

Diagnosing Joubert Syndrome Type 6

Joubert syndrome is typically diagnosed based on the presence of the molar tooth sign on brain imaging, as well as clinical features such as abnormal eye movements and respiratory patterns. Genetic testing is also an important tool for confirming a diagnosis and identifying the specific subtype of Joubert syndrome.

NGS genetic DNA testing is a powerful tool for identifying mutations in the TMEM67 gene and other genes associated with Joubert syndrome. This type of testing uses next-generation sequencing technology to rapidly sequence the entire coding region of the genome, allowing for the detection of small mutations and variants that may be missed by traditional sequencing methods.

The Cost of NGS Genetic DNA Testing in India

The cost of NGS genetic DNA testing in India varies depending on the specific laboratory and type of test being performed. However, DNA Labs India offers high-quality NGS genetic DNA testing for Joubert syndrome and other genetic disorders at an affordable cost of INR 20,000.

NGS genetic DNA testing can provide valuable information for individuals and families affected by Joubert syndrome, including a definitive diagnosis, information about the specific subtype and prognosis, and guidance for family planning and genetic counseling.

Conclusion

Joubert syndrome type 6 is a rare genetic disorder caused by mutations in the TMEM67 gene. Symptoms can vary widely and may include delayed development, abnormal eye movements, and kidney abnormalities. NGS genetic DNA testing is an important tool for diagnosing Joubert syndrome and identifying the specific subtype, and DNA Labs India offers affordable testing for this and other genetic disorders.

If you suspect that you or a family member may have Joubert syndrome, it is important to seek medical attention and genetic counseling to discuss testing options and treatment options. With the right diagnosis and support, individuals with Joubert syndrome can lead fulfilling and meaningful lives.

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 TMEM67 Gene Joubert syndrome type 6 NGS Genetic DNA Test