GYS2 Gene Glycogen Storage Disease Type 0 NGS Genetic Test – Symptoms, Diagnosis and Cost
Glycogen storage disease type 0 is a rare genetic disorder that affects the way the body stores and uses glycogen, a form of sugar that is used as a source of energy. This disorder is caused by mutations in the GYS2 gene which provides instructions to make an enzyme called glycogen synthase 2. This enzyme plays a crucial role in the process of glycogen synthesis.
Symptoms of Glycogen Storage Disease Type 0
The symptoms of GSD type 0 can vary from person to person and may include:
- Low blood sugar levels (hypoglycemia)
- Fatigue and weakness
- Difficulty gaining weight or failure to thrive in infants
- Liver enlargement (hepatomegaly)
- Low muscle tone (hypotonia)
- Delayed growth and development
- Recurrent infections
Diagnosis of Glycogen Storage Disease Type 0
GSD type 0 can be diagnosed through a variety of tests including:
- Blood glucose tests
- Genetic testing
- Enzyme activity tests
- Imaging tests such as ultrasound or CT scan
- Liver biopsy
Genetic testing is the most definitive way to diagnose GSD type 0. This test looks for mutations in the GYS2 gene and can be done through a simple blood sample or cheek swab.
NGS Genetic Test for GYS2 Gene Glycogen Storage Disease Type 0
Next-generation sequencing (NGS) is a powerful tool that can be used to identify mutations in the GYS2 gene. This test involves sequencing the entire gene to look for any changes that may be causing the disorder.
The cost of NGS Genetic Test for GYS2 gene glycogen storage disease type 0 in India is around INR 20,000. However, the cost may vary depending on the laboratory and location.
Conclusion
Glycogen storage disease type 0 is a rare genetic disorder that can cause a variety of symptoms including low blood sugar levels, fatigue, and liver enlargement. Genetic testing, including NGS, is the most definitive way to diagnose this disorder. The cost of NGS Genetic Test for GYS2 gene glycogen storage disease type 0 in India is around INR 20,000. Early diagnosis and treatment can help manage the symptoms and improve the quality of life for individuals with this disorder.
For more information on genetic testing and diagnosis of GSD type 0, you can contact DNA Labs India.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test
Test Name | GYS2 Gene Glycogen storage disease type 0 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 GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 0 |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for GYS2 Gene Glycogen storage disease type 0 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 0 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GYS2 Gene Glycogen storage disease type 0 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.