PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Glycogen storage disease type 7 is a rare genetic disorder that affects the body’s ability to break down glycogen, a complex sugar that provides energy to the muscles. This disease is also known as Tarui disease or muscle phosphofructokinase (PFKM) deficiency. It is caused by mutations in the PFKM gene, which provides instructions for making an enzyme that is important in the breakdown of glycogen.
Symptoms of Glycogen Storage Disease Type 7
The symptoms of glycogen storage disease type 7 can vary widely depending on the severity of the disease. Some common symptoms include:
- Muscle weakness and cramping
- Pain in the muscles during exercise
- Fatigue
- Difficulty running or climbing stairs
- Delayed growth and development
- Enlarged liver and spleen
- High levels of creatine kinase in the blood
Diagnosis of Glycogen Storage Disease Type 7
Diagnosis of glycogen storage disease type 7 typically involves a combination of clinical examination, blood tests, and genetic testing. A doctor may suspect the disease based on the patient’s symptoms, medical history, and family history. Blood tests can be used to measure levels of creatine kinase and other enzymes that are important in glycogen breakdown. Genetic testing can confirm the diagnosis by identifying mutations in the PFKM gene.
NGS Genetic Test for Glycogen Storage Disease Type 7
NGS (Next-Generation Sequencing) Genetic Testing is a powerful tool for diagnosing genetic diseases like glycogen storage disease type 7. This test can analyze the entire PFKM gene and identify any mutations that may be causing the disease. NGS testing is highly accurate and can provide a definitive diagnosis in most cases. The cost of an NGS Genetic Test for glycogen storage disease type 7 is typically around INR 20000.
Conclusion
Glycogen storage disease type 7 is a rare genetic disorder that can cause muscle weakness, fatigue, and other symptoms. Diagnosis typically involves a combination of clinical examination, blood tests, and genetic testing. NGS Genetic Testing is a highly accurate and effective way to diagnose this disease, with a cost of around INR 20000. Early diagnosis and treatment can help manage symptoms and improve quality of life for those with this condition.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic Testing for glycogen storage disease type 7. Contact us today to learn more about our services and how we can help you.
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 PFKM Gene Glycogen storage disease type 7 NGS Genetic Test
| Test Name | PFKM Gene Glycogen storage disease type 7 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 PFKM Gene Glycogen storage disease type 7 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 7 |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PFKM Gene Glycogen storage disease type 7 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 7 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PFKM Gene Glycogen storage disease type 7 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.
