RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, Autosomal Recessive NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
Progressive external ophthalmoplegia (PEO) is a rare genetic disorder that primarily affects the muscles responsible for eye movement. This condition can be caused by mutations in several different genes, including the RNASEH1 gene. RNASEH1 gene-related PEO is a type of mitochondrial disease, which means it is caused by problems with the mitochondria, the energy-producing structures in our cells.
PEO with mitochondrial deletions type 2, autosomal recessive is a specific subtype of RNASEH1 gene-related PEO. This condition is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Symptoms of RNASEH1 Gene-Related PEO
The symptoms of RNASEH1 gene-related PEO can vary widely from person to person. Common symptoms may include:
- Weakness in the eye muscles, which can cause drooping eyelids (ptosis) or difficulty moving the eyes (ophthalmoplegia)
- Muscle weakness and fatigue, particularly in the arms and legs
- Difficulty with coordination and balance
- Speech and swallowing difficulties
- Hearing loss
- Heart problems
Diagnosis of RNASEH1 Gene-Related PEO
Diagnosis of RNASEH1 gene-related PEO typically involves a combination of clinical evaluation, genetic testing, and imaging studies. Your doctor may perform a physical exam to assess your muscle strength and eye movements. They may also order blood tests to look for signs of mitochondrial dysfunction.
Genetic testing is the most definitive way to diagnose RNASEH1 gene-related PEO. This may involve targeted testing for specific mutations in the RNASEH1 gene, or next-generation sequencing (NGS) to analyze multiple genes associated with mitochondrial disease. NGS testing can help identify the specific genetic mutation causing your symptoms, which can be helpful in guiding treatment decisions.
Cost of RNASEH1 Gene-Related PEO NGS Genetic Test
The cost of NGS genetic testing for RNASEH1 gene-related PEO can vary depending on the specific test and the laboratory conducting the test. In India, the cost of RNASEH1 gene-related PEO NGS Genetic Testing typically ranges from INR 15,000 to INR 25,000.
Treatment and Management of RNASEH1 Gene-Related PEO
Unfortunately, there is currently no cure for RNASEH1 gene-related PEO. Treatment is focused on managing symptoms and improving quality of life. This may involve physical therapy to improve muscle strength and coordination, as well as speech therapy to address communication and swallowing difficulties.
Some medications, such as coenzyme Q10 and creatine, may also be helpful in managing symptoms of mitochondrial disease. In severe cases, surgery to correct ptosis or other eye muscle problems may be necessary.
Conclusion
RNASEH1 gene-related PEO is a rare genetic disorder that can cause a range of symptoms, including muscle weakness, eye muscle problems, and speech and swallowing difficulties. Genetic testing, including NGS testing, can help diagnose the condition and guide treatment decisions. While there is no cure for RNASEH1 gene-related PEO, a multidisciplinary approach to symptom management can help improve quality of life for affected individuals.
If you suspect that you or a loved one may have RNASEH1 gene-related PEO, it is important to speak with a healthcare provider who specializes in mitochondrial disease. They can help guide you through the diagnostic process and develop an appropriate treatment plan.
For more information on RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2, Autosomal Recessive NGS Genetic Test, please contact DNA Labs India at [insert contact information here].
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| Test Name | RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive 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 RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive 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.
