CEP41 Gene and Joubert Syndrome Type 15: Symptoms, Diagnosis, and NGS Genetic Test Cost in India

Joubert syndrome is a rare genetic disorder that affects the development of the cerebellum, a part of the brain that controls coordination and balance. It is characterized by a distinctive brain malformation called the “molar tooth sign,” which is visible on brain imaging.

Joubert syndrome is a genetically heterogeneous condition, which means that there are several genes that can cause the disorder. One of these genes is the CEP41 gene, which is associated with Joubert syndrome type 15.

CEP41 Gene and Joubert Syndrome Type 15

The CEP41 gene provides instructions for making a protein called centrosomal protein 41. This protein is involved in the proper organization and function of the centrosome, a cellular structure that helps to organize the cell’s microtubules and plays a crucial role in cell division.

When mutations occur in the CEP41 gene, it can disrupt the function of the centrosome, leading to abnormal development of the cerebellum and other parts of the brain. This can result in Joubert syndrome type 15, which is characterized by the molar tooth sign on brain imaging, hypotonia (low muscle tone), intellectual disability, abnormal eye movements, and breathing abnormalities.

Diagnosis

Joubert syndrome can be diagnosed through brain imaging, such as magnetic resonance imaging (MRI), which can reveal the molar tooth sign. Genetic testing can also be used to confirm a diagnosis and identify the specific gene mutations responsible for the disorder.

NGS Genetic Testing is a powerful tool for identifying genetic mutations associated with Joubert syndrome. This type of testing can analyze multiple genes simultaneously, making it possible to identify mutations in the CEP41 gene and other genes associated with Joubert syndrome.

Cost of NGS Genetic Test for CEP41 Gene

The cost of NGS Genetic Testing for the CEP41 gene can vary depending on the laboratory and the specific testing method used. In India, the cost of NGS Genetic Testing for Joubert syndrome type 15 can range from INR 20,000 to INR 50,000.

It is important to note that genetic testing is not always covered by insurance, so patients should check with their insurance provider to determine their coverage options and any out-of-pocket costs they may incur.

Conclusion

Joubert syndrome type 15 is a rare genetic disorder that is caused by mutations in the CEP41 gene. NGS Genetic Testing can be used to diagnose the disorder and identify the specific gene mutations responsible. While the cost of NGS Genetic Testing can vary, it is an important tool for accurate diagnosis and personalized treatment of Joubert syndrome.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS Genetic Testing for Joubert syndrome type 15. Contact us today to learn more about our testing options and how we can help you get the answers you need.

CEP41 (Centrosomal Protein 41) is a gene that plays a crucial role in cilia function and maintenance. Cilia are hair-like structures on the surface of cells that have important sensory and signaling functions.

Mutations in the CEP41 gene can disrupt cilia-related processes, leading to the development of Joubert syndrome and its associated neurological and developmental symptoms.

NGS (Next-Generation Sequencing) Genetic Tests can be used to analyze the DNA sequence of genes like CEP41 to identify any mutations or variants that may be associated with Joubert Syndrome Type 15.

If you or someone you know is considering genetic testing for Joubert syndrome related to the CEP41 gene, I recommend consulting with a medical geneticist, a neurologist, or a genetic counselor. They can provide accurate and current information about the condition, the implications of genetic testing, and any available treatment or management options. Medical knowledge can evolve, so it’s important to rely on expert guidance for the latest information.

 Note: We offer free home sample collection for online bookings for CEP41 Gene Joubert syndrome type 15 NGS Genetic Test and the test costs a special discounted price of 20000 INR across India. The cities where this service is available include Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Surat, Pune, Jaipur, Lucknow, Kanpur, Nagpur, Indore, Thane, Bhopal, Visakhapatnam, Pimpri-Chinchwad, Patna, Vadodara, Ghaziabad, Ludhiana, Agra, Nashik, Faridabad, Meerut, Rajkot, Kalyan-Dombivali, Vasai-Virar, Varanasi, Srinagar, Aurangabad, Dhanbad, Amritsar, Navi Mumbai, Prayagraj, Howrah, Ranchi, Jabalpur, Gwalior, Coimbatore, Vijayawada, Jodhpur, Madurai, Raipur, Kota, Guwahati, Chandigarh, Thiruvananthapuram, Solapur, Hubballi-Dharwad, Tiruchirappalli, Tiruppur, Moradabad, Mysore, Bareily, Gurgaon, Aligarh, Jalandhar, Bhubaneswar, Salem, Mira-Bhayandar, Warangal , Guntur , Bhiwandi, Saharanpur, Gorakhpur, Bikaner, Amravati, Noida, Jamshedpur, Bhilai, Cuttack, Firozabad, Kochi, Nellore , Bhavnagar, Dehradun, Durgapur, Asansol, Rourkela, Nanded, Kolhapur, Ajmer, Akola, Gulbarga, Jamnagar, Ujjain, Loni, Siliguri, Jhansi, Ulhasnagar, Jammu, Sangli-Miraj & Kupwad, Mangalore, Erode10, Belgaum, Ambattur, Tirunelveli, Malegaon, Gaya, Jalgaon, Udaipur, Maheshtala, Davanagere, Kozhikode, Kurnool, Rajpur Sonarpur, Rajahmundry , Bokaro, South Dumdum, Bellary, Patiala, Gopalpur, Agartala, Bhagalpur, Muzaffarnagar, Bhatpara, Panihati, Latur, Dhule, Tirupati , Rohtak, Korba, Bhilwara, Berhampur, Muzaffarpur, Ahmednagar, Mathura, Kollam, Avadi, Kadapa, Kamarhati, Sambalpur, Bilaspur, Shahjahanpur, Satara, Bijapur, Rampur, Shivamogga, Chandrapur, Junagadh, Thrissur, Alwar, Bardhaman, Kulti, Kakinada, Nizamabad, Parbhani, Tumkur, Khammam, Ozhukarai, Bihar Sharif, Panipat, Darbhanga, Bally, Aizawl, Dewas, Ichalkaranji, Karnal, Bathinda, Jalna, Eluru, Kirari Suleman Nagar, Barasat, Purnia, Satna, Mau, Sonipat, Farrukhabad, Sagar, Rourkela, Durg, Imphal, Ratlam, Hapur, Arrah, Karimnagar, Anantapur, Etawah, Ambernath, North Dumdum, Bharatpur, Begusarai, New Delhi, Gandhidham, Baranagar, Tiruvottiyur, Puducherry, Sikar, Thoothukudi, Rewa, Mirzapur, Raichur, Pali, Ramagundam , Haridwar, Vijayanagaram, Katihar, Nagarcoil, Sri Ganganagar, Karawal Nagar, Mango, Thanjavur, Bulandshahr, Uluberia, Murwara, Sambhal, Singrauli, Nadiad, Secunderabad, Naihati, Yamunanagar, Bidhan Nagar, Pallavaram, Bidar, Munger, Panchkula, Burhanpur, Raurkela Industrial Township, Kharagpur, Dindigul, Gandhinagar, Hospet, Nangloi Jat, Malda, Ongole, Deoghar, Chapra, Haldia, Khandwa, Nandyal, Chittoor , Morena, Amroha, Anand, Bhind, Bhalswa Jahangir Pur, Madhyamgram, Bhiwani, Navi Mumbai Panvel Raigad, Baharampur, Ambala, Morvi, Fatehpur, Rae Bareli, Khora, Bhusawal, Orai, Bahraich, Vellore, Mahesana, Sambalpur, Raiganj, Sirsa, Danapur, Serampore, Sultan Pur Majra, Guna, Jaunpur, Panvel, Shivpuri, Surendranagar Dudhrej, Unnao, Hugli and Chinsurah, Alappuzha, Kottayam, Machilipatnam, Shimla, Adoni, Tenali, Proddatur, Saharsa, Hindupur, Sasaram, Hajipur, Bhimavaram, Dehri, Madanapalle, Siwan, Bettiah, Guntakal, Srikakulam, Motihari, Dharmavaram, Gudivada, Narasaraopet, Bagaha, Miryalaguda, Tadipatri, Kishanganj, Karaikudi, Suryapet, Jamalpur, Kavali, Tadepalligudem, Amaravati, Buxar, Jehanabad, Aurangabad.