CDKN1C Gene Beckwith-Wiedemann Syndrome NGS Genetic Test
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects around 1 in 13,700 newborns worldwide. The disorder is characterized by overgrowth, abdominal wall defects, and an increased risk of childhood cancer. CDKN1C gene mutations have been identified as one of the causes of BWS.
Symptoms of Beckwith-Wiedemann Syndrome
BWS is a complex disorder, and symptoms can vary significantly from one person to another. Some of the most common symptoms of BWS include:
- Macrosomia (large body size)
- Abdominal wall defects
- Hypoglycemia (low blood sugar)
- Ear creases or pits
- Tongue enlargement or protrusion
- Visceral organomegaly (enlarged organs)
- Hemihypertrophy (asymmetrical growth of one side of the body)
- Increased risk of childhood cancer
Diagnosis of Beckwith-Wiedemann Syndrome
BWS can be diagnosed through a combination of clinical examination and genetic testing. Clinical examination may involve physical examination, imaging studies, and blood tests. Genetic testing can help confirm the diagnosis and identify the specific genetic mutation responsible for the disorder.
CDKN1C Gene and Beckwith-Wiedemann Syndrome
CDKN1C is a gene located on chromosome 11p15.5 that plays a crucial role in regulating cell growth and division. Mutations in this gene have been identified as a cause of BWS. CDKN1C mutations are usually inherited in an autosomal dominant pattern, which means that a person only needs one copy of the mutated gene to develop the disorder.
NGS Genetic Test for Beckwith-Wiedemann Syndrome
Next-generation sequencing (NGS) is a powerful genetic testing technology that can analyze multiple genes simultaneously. NGS testing can be used to identify CDKN1C mutations in individuals suspected of having BWS. The test involves collecting a blood or saliva sample from the patient and analyzing the DNA for mutations in the CDKN1C gene.
Cost of NGS Genetic Test for Beckwith-Wiedemann Syndrome
The cost of NGS Genetic Testing for Beckwith-Wiedemann syndrome in India is around INR 20,000. The cost may vary depending on the testing facility and the specific tests performed.
Conclusion
Beckwith-Wiedemann Syndrome is a rare genetic disorder that can have significant health implications. CDKN1C gene mutations have been identified as one of the causes of the disorder. NGS Genetic Testing can be used to identify CDKN1C mutations and confirm the diagnosis of BWS. The cost of NGS testing for BWS in India is around INR 20,000. Early diagnosis and appropriate management can help improve the long-term outcomes for individuals with BWS.
If you suspect that you or a loved one may have BWS, it is essential to speak with a healthcare professional who can provide an accurate diagnosis and appropriate treatment. DNA Labs India offers comprehensive genetic testing services, including NGS testing for BWS. Contact us today to learn more.
| Test Name | CDKN1C 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 CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test gene CDKN1C |
| Disease | Cancer |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test gene CDKN1C |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CDKN1C 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.
