PUS1 Gene Mitochondrial Myopathy and Sideroblastic Anemia Type 1 NGS Genetic Test
DNA Labs India offers a comprehensive NGS Genetic Test that can detect mutations in the PUS1 gene, which is associated with mitochondrial myopathy and sideroblastic anemia type 1. Mitochondrial myopathy is a rare genetic disorder that affects the muscles and can cause weakness, fatigue, and difficulty with movement. Sideroblastic anemia is a condition in which the body has trouble producing enough healthy red blood cells.
The PUS1 gene provides instructions for making an enzyme called pseudouridine synthase 1, which is involved in the process of making proteins. Mutations in the PUS1 gene can disrupt the normal function of this enzyme, leading to the symptoms of mitochondrial myopathy and sideroblastic anemia.
The NGS Genetic Test offered by DNA Labs India can detect mutations in the PUS1 gene with high accuracy and specificity. The test is performed using a small blood sample and the results are typically available within a few weeks.
Test Cost
The cost of the PUS1 gene mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test at DNA Labs India is INR 20,000.
Symptoms
The symptoms of mitochondrial myopathy and sideroblastic anemia type 1 can vary widely from person to person. Some common symptoms include:
- Muscle weakness and fatigue
- Difficulty with movement
- Poor coordination
- Anemia
- Fatigue
- Pale skin
- Shortness of breath
- Heart palpitations
- Enlarged liver or spleen
If you are experiencing any of these symptoms, it is important to talk to your doctor to determine the underlying cause.
Diagnosis
Diagnosing mitochondrial myopathy and sideroblastic anemia type 1 can be challenging, as the symptoms are similar to those of many other conditions. However, a Genetic Test like the one offered by DNA Labs India can help to confirm a diagnosis.
If you are interested in getting tested for mutations in the PUS1 gene, you can contact DNA Labs India to schedule an appointment. The process is simple and painless, and the results can provide valuable information about your health.
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 PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
| Test Name | PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Cardiologist |
| Pre-test Information | Clinical History of Patient who is going for PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test gene PUS1 |
| Disease | Cardiovascular Pneumology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | NULL |
| Fasting | Clinical History of Patient who is going for PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test gene PUS1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 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.
