DNA Labs India: Understanding ENO3 Gene and Glycogen Storage Disease Type 13

Glycogen storage disease type 13, also known as GSD13, is a rare genetic disorder that affects the way the body stores and uses glycogen. It is caused by mutations in the ENO3 gene, which provides instructions for making an enzyme called enolase 3.

The ENO3 gene is located on chromosome 17 and is responsible for producing enolase 3, an enzyme that plays a critical role in the breakdown of glycogen. Glycogen is a complex sugar that the body uses as a source of energy. When the body needs energy, glycogen is broken down into glucose, which is then used by cells for energy.

Symptoms of Glycogen Storage Disease Type 13

The symptoms of GSD13 can vary from person to person, but typically include:

• Low blood sugar levels (hypoglycemia)
• Difficulty gaining weight
• Delayed growth and development
• Enlarged liver (hepatomegaly)
• Enlarged heart (cardiomegaly)
• Abnormal muscle tone (hypotonia)
• Weakness
• Difficulty breathing

Diagnosing Glycogen Storage Disease Type 13

GSD13 is diagnosed through genetic testing, which looks for mutations in the ENO3 gene. This can be done through a variety of methods, including:

• NGS (Next-Generation Sequencing) Genetic Test
• Whole-exome sequencing
• Sanger sequencing

NGS Genetic Test is the most common method used for diagnosing GSD13. It is a highly sensitive and accurate test that can detect even small mutations in the ENO3 gene.

Cost of NGS Genetic Test for Glycogen Storage Disease Type 13

The cost of NGS Genetic Test for Glycogen Storage Disease Type 13 in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and the specific testing method used.

The Importance of Early Diagnosis

Early diagnosis of GSD13 is important in order to prevent complications and manage the symptoms of the disease. Treatment may include a special diet, medications to manage blood sugar levels, and other supportive therapies.

If you or someone you know is experiencing symptoms of GSD13, it is important to speak with a healthcare provider and undergo genetic testing as soon as possible.

Conclusion

Glycogen storage disease type 13 is a rare genetic disorder that affects the way the body stores and uses glycogen. It is caused by mutations in the ENO3 gene and can lead to a variety of symptoms, including low blood sugar levels, difficulty gaining weight, and enlarged liver and heart. NGS Genetic Test is the most common method used for diagnosing GSD13 and can cost approximately INR 20,000 in India. Early diagnosis is important in order to prevent complications and manage the symptoms of the disease.

DNA Labs India offers a wide range of genetic testing services, including NGS Genetic Test for Glycogen Storage Disease Type 13. Contact us today to learn more about our services and how we can help you.

 Note: We offer free home sample collection for online bookings for ENO3 Gene Glycogen storage disease type 13 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.