ALDOA Gene and Glycogen Storage Disease Type 12: Symptoms, Diagnosis and NGS Genetic Test Cost
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by abnormal storage or breakdown of glycogen in the body’s tissues. GSD type 12 is caused by mutations in the ALDOA gene, which encodes for the enzyme aldolase A that is involved in the breakdown of glucose. This results in a deficiency of glycogen breakdown in muscle cells, leading to muscle weakness, cramping, and fatigue.
Symptoms of GSD Type 12
The symptoms of GSD type 12 can vary in severity and onset. Some individuals may experience symptoms from birth, while others may not show any symptoms until adulthood. The most common symptoms include:
- Muscle weakness and cramping
- Fatigue
- Exercise intolerance
- Myoglobinuria (the presence of myoglobin in urine)
- Elevated liver enzymes
Diagnosis of GSD Type 12
The diagnosis of GSD type 12 is usually made through a combination of clinical symptoms, biochemical tests, and genetic testing. A muscle biopsy may also be performed to confirm the diagnosis and assess the severity of the disease. Genetic testing is particularly important for family members of affected individuals to identify carriers and provide genetic counseling.
NGS Genetic Test Cost
Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations associated with GSD type 12 and other genetic disorders. DNA Labs India offers NGS Genetic Testing for GSD type 12 at a cost of INR 20,000. This test can identify mutations in the ALDOA gene, allowing for early diagnosis and treatment of the disease.
Conclusion
GSD type 12 is a rare genetic disorder that can cause muscle weakness, cramping, and fatigue. Early diagnosis through genetic testing can help individuals and families affected by the disease receive appropriate treatment and genetic counseling. DNA Labs India offers NGS Genetic Testing for GSD type 12 at an affordable cost, making it accessible to those in need.
For more information on NGS Genetic Testing and other genetic testing services, visit the DNA Labs India website.
Test Name | ALDOA Gene Glycogen storage disease type 12 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 ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 12 |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ALDOA Gene Glycogen storage disease type 12 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 12 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ALDOA Gene Glycogen storage disease type 12 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.