TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Joubert Syndrome is a rare genetic disorder that affects the brain’s development. It is characterized by a malformation of the cerebellar vermis, a structure located in the hindbrain that plays a role in coordinating movements. Joubert Syndrome can cause a range of symptoms, including breathing problems, developmental delays, and abnormal eye movements. The condition is caused by mutations in several genes, including the TMEM216 gene.
The TMEM216 gene provides instructions for making a protein that is involved in the formation and function of cilia. Cilia are microscopic, hair-like structures that protrude from the surface of cells and play a role in cell signaling and movement. Mutations in the TMEM216 gene can disrupt cilia function, leading to the development of Joubert Syndrome.
NGS Genetic Test for TMEM216 Gene Joubert Syndrome Type 2
DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic Test for TMEM216 Gene Joubert Syndrome Type 2. This test uses cutting-edge technology to analyze the patient’s DNA and detect mutations in the TMEM216 gene. The test is highly accurate and can detect mutations that traditional genetic tests may miss. The NGS Genetic Test for TMEM216 Gene Joubert Syndrome Type 2 costs INR 20000.
Symptoms of Joubert Syndrome
- Abnormal breathing patterns
- Delayed development milestones, such as sitting up or walking
- Low muscle tone
- Coordination and balance problems
- Abnormal eye movements
- Kidney abnormalities
- Cleft lip or palate
- Seizures
- Intellectual disability
Diagnosis of Joubert Syndrome
Diagnosis of Joubert Syndrome typically involves a physical examination, medical history review, and genetic testing. The NGS Genetic Test for TMEM216 Gene Joubert Syndrome Type 2 offered by DNA Labs India can help confirm a diagnosis of Joubert Syndrome.
Conclusion
If you or your child is experiencing symptoms of Joubert Syndrome, it is important to seek medical attention and consider genetic testing. DNA Labs India offers affordable and accurate genetic testing services, including the NGS Genetic Test for TMEM216 Gene Joubert Syndrome Type 2. Contact us today to learn more.
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 TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test
| Test Name | TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM216 Gene Joubert syndrome type 2 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM216 Gene Joubert syndrome type 2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TMEM216 Gene Joubert syndrome type 2 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.
