CEP290 Gene Bardet-Biedl Syndrome Type 14 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. It is caused by mutations in over 20 different genes, including the CEP290 gene. BBS is characterized by obesity, vision loss, kidney abnormalities, and cognitive impairment. BBS is a heterogeneous disorder with significant clinical variability, which means that the symptoms and severity can vary widely between affected individuals.
CEP290 Gene and Bardet-Biedl Syndrome Type 14
The CEP290 gene, also known as the centrosomal protein 290, is located on chromosome 12 and is responsible for producing a protein that plays a crucial role in the formation and function of cilia. Cilia are tiny, hair-like structures that protrude from the surface of cells and are involved in various cellular processes, including the movement of fluids and particles, signal transduction, and sensory perception.
CEP290 mutations are associated with Bardet-Biedl syndrome type 14 (BBS14), which is a rare subtype of BBS. BBS14 is characterized by obesity, vision loss, renal dysfunction, and cognitive impairment. It is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated CEP290 gene, one from each parent.
NGS Genetic Test for CEP290 Gene and BBS14
A Next-Generation Sequencing (NGS) Genetic Test is a powerful tool for identifying genetic mutations in the CEP290 gene and other genes associated with Bardet-Biedl syndrome. The test involves sequencing the entire coding region of the CEP290 gene and analyzing the data to identify any mutations or variations that may be present.
The NGS Genetic Test for CEP290 gene and BBS14 is a non-invasive test that requires a simple blood or saliva sample. The test is highly accurate and can detect mutations even in cases where other diagnostic tests have been inconclusive.
Symptoms of Bardet-Biedl Syndrome Type 14
The symptoms of Bardet-Biedl syndrome type 14 can vary widely between affected individuals. The most common symptoms include:
- Obesity
- Vision loss or blindness
- Renal dysfunction
- Cognitive impairment or developmental delay
- Polydactyly (extra fingers or toes)
- Hypogonadism (reduced function of the gonads)
- Speech and language disorders
- Abnormalities of the genitalia
Other less common symptoms may include diabetes, heart defects, and hearing loss.
Diagnosis of Bardet-Biedl Syndrome Type 14
Diagnosis of Bardet-Biedl syndrome type 14 typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A thorough medical history and physical examination may reveal characteristic features of BBS, such as obesity, vision loss, and renal dysfunction. Genetic testing can confirm the presence of mutations in the CEP290 gene or other genes associated with BBS. Imaging studies such as ultrasound, CT scan, or MRI may be used to evaluate kidney function or detect abnormalities in other organs.
Cost of NGS Genetic Test for CEP290 Gene and BBS14
The cost of the NGS Genetic Test for CEP290 gene and BBS14 can vary depending on the provider and location. In India, the test typically costs around INR 20,000.
Conclusion
Bardet-Biedl syndrome type 14 is a rare genetic disorder caused by mutations in the CEP290 gene. The disorder is characterized by obesity, vision loss, renal dysfunction, and cognitive impairment. NGS Genetic Testing is a powerful tool for identifying mutations in the CEP290 gene and other genes associated with BBS. Early diagnosis and intervention can help improve outcomes and quality of life for affected individuals and their families.
| Test Name | CEP290 Gene Bardet-Biedl syndrome type 14 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 CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test gene CEP290 |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test gene CEP290 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CEP290 Gene Bardet-Biedl syndrome type 14 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.
