BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic Test: Symptoms, Diagnosis and Cost
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple systems in the body. It is an autosomal recessive disorder, which means that an individual needs to inherit two copies of the mutated gene, one from each parent, to develop the condition. There are at least 21 different genes that are associated with BBS, and one of them is the BBS1 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the BBS1 gene Bardet-Biedl syndrome type 1 NGS Genetic Test.
Symptoms of Bardet-Biedl Syndrome
Bardet-Biedl Syndrome can affect various body systems, and the severity and combination of symptoms can vary greatly among affected individuals. Some of the common symptoms of BBS include:
- Obesity or difficulty in controlling weight
- Retinal degeneration leading to blindness
- Abnormalities in the kidneys, such as cysts or malformations
- Polydactyly, which means having extra fingers or toes
- Delayed development or intellectual disability
- Hypogonadism or underdeveloped reproductive organs
- Abnormalities in the liver or pancreas
Some individuals with BBS may not have all of these symptoms, and some may have additional symptoms that are not listed here.
Diagnosis of Bardet-Biedl Syndrome
Bardet-Biedl Syndrome can be challenging to diagnose because of its wide range of symptoms and rarity. A diagnosis of BBS is typically based on clinical features and genetic testing. A medical professional may suspect BBS if an individual has a combination of symptoms that are consistent with the condition. Genetic testing can confirm a diagnosis of BBS by identifying mutations in one of the known BBS genes, including the BBS1 gene.
BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic Test
The BBS1 gene Bardet-Biedl syndrome type 1 NGS Genetic Test is a diagnostic test that analyzes an individual’s DNA for mutations in the BBS1 gene. This test uses next-generation sequencing (NGS) technology to examine the entire coding region of the BBS1 gene. NGS is a powerful tool that allows for the rapid and comprehensive analysis of genetic information. The BBS1 gene Bardet-Biedl syndrome type 1 NGS Genetic Test can provide an accurate diagnosis of BBS in individuals who have symptoms consistent with the condition.
Cost of BBS1 Gene Bardet-Biedl Syndrome Type 1 NGS Genetic Test
The cost of the BBS1 gene Bardet-Biedl syndrome type 1 NGS Genetic Test in India is approximately INR 20,000. This cost may vary depending on the testing facility and the specific details of the test. It is important to note that this test may not be covered by insurance, and individuals should check with their insurance provider regarding coverage and reimbursement.
Conclusion
Bardet-Biedl Syndrome is a rare genetic disorder that can affect multiple body systems. The BBS1 gene Bardet-Biedl syndrome type 1 NGS Genetic Test is a diagnostic test that can provide an accurate diagnosis of BBS in individuals who have symptoms consistent with the condition. The cost of this test may vary, and individuals should check with their insurance provider regarding coverage and reimbursement. If you or someone you know has symptoms of BBS, it is important to seek medical attention and genetic testing for an accurate diagnosis and appropriate management.
| Test Name | BBS1 Gene Bardet-Biedl syndrome type 1 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 BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test gene BBS1 |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test gene BBS1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for BBS1 Gene Bardet-Biedl syndrome type 1 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.
