Understanding Beckwith-Wiedemann Syndrome and the H19 Gene
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects approximately 1 in every 13,000 births. It is caused by changes in the H19 gene, which plays a crucial role in regulating the growth of cells in the body. BWS can cause a wide range of symptoms, including overgrowth, abdominal wall defects, and an increased risk of certain types of cancer. Early diagnosis through NGS Genetic Testing can help parents and doctors manage the condition and reduce the risk of complications.
Symptoms of Beckwith-Wiedemann Syndrome
The symptoms of BWS can vary widely from person to person. Some children with BWS may be born larger than average, while others may develop overgrowth during childhood. Other common symptoms include:
- Abdominal wall defects, such as omphalocele or umbilical hernia
- Large tongue (macroglossia)
- Low blood sugar (hypoglycemia)
- Ear creases or pits
- Increased risk of childhood cancers, such as Wilms tumor or hepatoblastoma
Children with BWS may also have developmental delays or learning disabilities. It is important to note that not all children with BWS will have all of these symptoms, and some may have only mild symptoms.
Diagnosis of Beckwith-Wiedemann Syndrome
BWS can be diagnosed through genetic testing, such as Next-Generation Sequencing (NGS) Genetic Testing. This type of testing can identify changes in the H19 gene that are associated with BWS. It is important to diagnose BWS as early as possible to reduce the risk of complications and to allow for appropriate management of the condition.
Cost of NGS Genetic Testing for Beckwith-Wiedemann Syndrome
The cost of NGS Genetic Testing for BWS can vary depending on the provider and the location. In India, the cost of this test is typically around INR 20,000. While this may seem like a significant expense, early diagnosis can help parents and doctors manage the condition and reduce the risk of complications, which can ultimately save money in the long run.
Managing Beckwith-Wiedemann Syndrome
There is no cure for BWS, but early diagnosis and management can help reduce the risk of complications. Treatment for BWS may include:
- Regular monitoring for cancer and other potential complications
- Surgery to correct abdominal wall defects or other physical abnormalities
- Treatment for low blood sugar
- Speech therapy or other interventions for macroglossia
- Early intervention and special education for developmental delays or learning disabilities
It is important for parents of children with BWS to work closely with their healthcare providers to develop a comprehensive treatment plan that addresses the individual needs of their child.
Conclusion
BWS is a rare genetic disorder that can cause a range of physical and developmental symptoms. Early diagnosis through NGS Genetic Testing can help parents and doctors manage the condition and reduce the risk of complications. While the cost of this test may seem high, it is a small price to pay for the peace of mind that comes with early diagnosis and appropriate management of the condition.
If you are concerned that your child may have BWS, contact DNA Labs India to learn more about NGS Genetic Testing and other diagnostic options.
| Test Name | H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Oncologist |
| Pre-test Information | Clinical History of Patient who is going for H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test gene H19 |
| Disease | Cancer |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test gene H19 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for H19 Gene Beckwith-Wiedemann syndrome 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.
