POLG2 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 4, Autosomal Dominant NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Progressive external ophthalmoplegia (PEO) is a rare genetic disorder that affects the muscles that control eye movement. It is characterized by weakness in the muscles that control eye movement, resulting in drooping eyelids and difficulty moving the eyes. PEO can be caused by mutations in several different genes, including the POLG2 gene.
What is the POLG2 Gene?
The POLG2 gene provides instructions for making a protein called DNA polymerase gamma B. This protein is involved in the replication and repair of mitochondrial DNA, which is the DNA found in the mitochondria of cells. Mitochondria are the energy-producing structures within cells, and they have their own DNA separate from the DNA in the cell nucleus.
When the POLG2 gene is mutated, it can lead to a decrease in the amount or function of DNA polymerase gamma B, which can result in mitochondrial DNA damage and dysfunction. This can lead to a variety of health problems, including PEO.
PEO with Mitochondrial Deletions Type 4, Autosomal Dominant
PEO with mitochondrial deletions type 4, autosomal dominant is a form of PEO that is caused by mutations in the POLG2 gene. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent in order to develop the condition.
Symptoms of PEO with mitochondrial deletions type 4, autosomal dominant can include:
- Drooping eyelids (ptosis)
- Difficulty moving the eyes (ophthalmoplegia)
- Muscle weakness and wasting
- Fatigue
- Difficulty swallowing (dysphagia)
- Hearing loss
- Speech difficulties
Diagnosis
PEO with mitochondrial deletions type 4, autosomal dominant can be diagnosed through genetic testing. A NGS Genetic Test can be used to identify mutations in the POLG2 gene. This test analyzes the entire coding region of the gene and can detect both known and novel mutations.
The cost of a NGS Genetic Test for PEO with mitochondrial deletions type 4, autosomal dominant at DNA Labs India is INR 20,000.
Conclusion
PEO with mitochondrial deletions type 4, autosomal dominant is a rare genetic disorder that can cause weakness in the muscles that control eye movement, as well as other health problems. It is caused by mutations in the POLG2 gene and can be diagnosed through genetic testing. The cost of a NGS Genetic Test for PEO with mitochondrial deletions type 4, autosomal dominant at DNA Labs India is INR 20,000. If you or a loved one are experiencing symptoms of PEO, it is important to talk to a healthcare provider and consider genetic testing.
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 POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test
| Test Name | POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant 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.
