PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency: Symptoms, Diagnosis, and Mitochondrial NGS Genetic Test Cost
Phosphoenolpyruvate carboxykinase (PEPCK) is an enzyme that plays a crucial role in the regulation of glucose metabolism. The PCK2 gene provides instructions for making the mitochondrial form of PEPCK. PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is a rare genetic disorder that affects the function of this enzyme. This condition can lead to a wide range of symptoms and health problems, including metabolic disturbances, hypoglycemia, and neurological disorders.
Symptoms of PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency
People with PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency may experience a variety of symptoms, including:
- Low blood sugar (hypoglycemia)
- Metabolic disturbances
- Developmental delays
- Seizures
- Cardiac abnormalities
- Abnormal muscle tone
- Intellectual disability
- Short stature
- Neurological disorders
Diagnosis of PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency
PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is diagnosed using a variety of tests, including:
- Genetic testing: This involves analyzing a person’s DNA to look for mutations in the PCK2 gene.
- Blood tests: These can help identify metabolic disturbances and other health problems associated with PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency.
- Imaging tests: These can be used to identify cardiac abnormalities and other physical abnormalities associated with the condition.
Mitochondrial NGS Genetic Test Cost
The cost of a Mitochondrial NGS Genetic Test for PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency in India is approximately INR 20,000. This test is a comprehensive genetic test that can identify mutations in the PCK2 gene and other genes associated with mitochondrial dysfunction.
Conclusion
PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is a rare genetic disorder that can lead to a wide range of health problems. If you or a loved one is experiencing symptoms associated with this condition, it is important to seek medical attention and undergo genetic testing to receive an accurate diagnosis. The Mitochondrial NGS Genetic Test is a comprehensive genetic test that can identify mutations in the PCK2 gene and other genes associated with mitochondrial dysfunction. Contact DNA Labs India to learn more about genetic testing for PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency.
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 PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic Test
| Test Name | PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 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 PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phosphoenolpyruvate carboxykinase deficiency, mitochondrial |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PCK2 Gene Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 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.
