PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Glycogen storage disease type 9A is a rare genetic disorder that affects the body’s ability to store and use glycogen, a type of sugar that is stored in the liver and muscles. The PHKA2 gene is responsible for producing an enzyme called phosphorylase kinase, which helps break down glycogen into glucose for energy.
Symptoms of Glycogen Storage Disease Type 9A
The symptoms of glycogen storage disease type 9A can vary from person to person and may include:
- Low blood sugar (hypoglycemia)
- Enlarged liver (hepatomegaly)
- Enlarged heart (cardiomegaly)
- Muscle weakness and wasting
- Delayed growth and development
These symptoms may appear in infancy, childhood, or adulthood, depending on the severity of the disease.
Diagnosis of Glycogen Storage Disease Type 9A
Glycogen storage disease type 9A is diagnosed through a combination of physical examination, medical history, and genetic testing.
Physical examination may reveal an enlarged liver or heart, muscle weakness, and poor growth and development. Medical history may also provide clues to the diagnosis, such as a family history of the disease.
Genetic testing is the most reliable way to diagnose glycogen storage disease type 9A. This involves analyzing a person’s DNA to look for mutations in the PHKA2 gene. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once and provide a more comprehensive diagnosis.
PHKA2 Gene Glycogen Storage Disease Type 9A NGS Genetic Test Cost
The cost of a PHKA2 gene glycogen storage disease type 9A NGS Genetic Test can vary depending on the laboratory and location. In India, the cost is typically around INR 20,000.
Conclusion
Glycogen storage disease type 9A is a rare genetic disorder that can cause a range of symptoms, including low blood sugar, enlarged liver and heart, muscle weakness, and delayed growth and development. Diagnosis is typically done through a combination of physical examination, medical history, and genetic testing, including NGS Genetic Testing. If you suspect you or a loved one may have this condition, it’s important to speak with a healthcare provider and undergo testing to receive a proper diagnosis and treatment plan.
At DNA Labs India, we offer a range of Genetic Tests, including PHKA2 gene glycogen storage disease type 9A NGS Genetic Testing. Our tests are performed using state-of-the-art technology and are designed to provide accurate and reliable results. 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 PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test
| Test Name | PHKA2 Gene Glycogen storage disease type 9A 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 PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9A |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PHKA2 Gene Glycogen storage disease type 9A NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen storage disease type 9A |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PHKA2 Gene Glycogen storage disease type 9A 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.
