TMEM67 Gene Meckel Syndrome Type 3 NGS Genetic Test: Symptoms, Diagnosis, and Cost
Meckel syndrome type 3 is a rare genetic disorder that affects various parts of the body, including the brain, kidneys, and liver. It is caused by mutations in the TMEM67 gene and is inherited in an autosomal recessive manner. The disorder is characterized by a combination of features, including brain abnormalities, kidney cysts, and polydactyly.
Symptoms of Meckel Syndrome Type 3
The symptoms of Meckel syndrome type 3 vary depending on the severity of the disorder. Some common symptoms include:
- Brain abnormalities, such as hydrocephalus, which is the buildup of fluid in the brain
- Kidney cysts, which can lead to kidney failure
- Polydactyly, which is the presence of extra fingers or toes
- Facial abnormalities, such as a cleft lip or palate
- Abnormalities of the eyes, such as retinal dystrophy
Diagnosis of Meckel Syndrome Type 3
Meckel syndrome type 3 is diagnosed through genetic testing, such as NGS (next-generation sequencing) of the TMEM67 gene. This test can detect mutations in the gene that are responsible for the disorder. Prenatal diagnosis can also be done through chorionic villus sampling or amniocentesis.
Cost of the TMEM67 Gene Meckel Syndrome Type 3 NGS Genetic Test
In India, the cost of the TMEM67 gene Meckel syndrome type 3 NGS Genetic Test is around INR 20,000. However, the cost may vary depending on the laboratory or clinic where the test is being conducted. It is important to consult with a genetic counselor or healthcare provider before getting the test done.
Conclusion
Meckel syndrome type 3 is a rare genetic disorder that can cause a range of symptoms affecting various parts of the body. It is caused by mutations in the TMEM67 gene and is inherited in an autosomal recessive manner. Genetic testing, such as NGS of the TMEM67 gene, can help diagnose the disorder. The cost of the test in India is around INR 20,000. If you suspect that you or your child may have Meckel syndrome type 3, it is important to consult with a genetic counselor or healthcare provider for diagnosis and treatment options.
| Test Name | TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test gene TMEM67 |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TMEM67 Gene Meckel syndrome type 3 NGS Genetic Test gene TMEM67 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TMEM67 Gene Meckel syndrome type 3 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.
