PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency NGS Genetic Test cost INR:20000 symptoms diagnosis
PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency is a rare genetic disorder that affects the nervous system. It is caused by mutations in the PNPO gene, which is responsible for producing an enzyme called pyridoxamine 5′-phosphate oxidase. This enzyme is involved in the metabolism of vitamin B6, which is essential for the proper functioning of the nervous system.
NGS Genetic Test is a test that helps in diagnosing PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency. This test analyzes the DNA sequence of the PNPO gene to identify any mutations that may be present. The cost of this test at DNA Labs India is INR 20000.
Symptoms of PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency
The symptoms of PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency vary from person to person. Some of the common symptoms include:
- Seizures
- Muscle weakness
- Developmental delay
- Intellectual disability
- Abnormal movements
- Dizziness
- Ataxia (lack of muscle control)
- Neurological problems
Diagnosis of PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency
PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency can be diagnosed through a combination of clinical evaluation, biochemical testing, and genetic testing. A physical examination may reveal neurological symptoms such as seizures, muscle weakness, or abnormal movements. Biochemical testing can measure the levels of vitamin B6 metabolites in the blood and urine. Genetic testing, such as NGS Genetic Test, can identify mutations in the PNPO gene.
If you or your child is experiencing any of the symptoms of PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency, it is important to consult a doctor. DNA Labs India offers NGS Genetic Test for the diagnosis of this rare genetic disorder at an affordable cost of INR 20000.
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 PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency NGS Genetic Test
| Test Name | PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency 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 PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyridoxamine 5′-phosphate oxidase deficiency |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyridoxamine 5′-phosphate oxidase deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PNPO Gene Pyridoxamine 5′-phosphate oxidase deficiency 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.
