Understanding TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia
Introduction
TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia is a rare genetic disorder characterized by the degeneration of the optic and acoustic nerves, leading to vision and hearing loss, along with cognitive decline. The disease is caused by mutations in the TIMM8A gene, which plays a crucial role in the transport of proteins into the mitochondria, the powerhouse of the cell.
Symptoms
The symptoms of TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia can vary depending on the severity of the disease, but typically include:
– Vision loss
– Hearing loss
– Cognitive decline
– Delayed motor development
– Seizures
Diagnosis
The diagnosis of TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia is made through genetic testing, specifically Next Generation Sequencing (NGS) of the TIMM8A gene. This test allows for the detection of mutations in the gene and can confirm a diagnosis.
Treatment
Unfortunately, there is currently no cure for TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia. Treatment is typically focused on managing symptoms and providing supportive care. This can include the use of hearing aids, vision aids, and therapy to help with cognitive decline.
Cost of NGS Genetic Test
The cost of the NGS Genetic Test for TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia in India is approximately INR 20,000.
Conclusion
TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia is a rare genetic disorder that can have a significant impact on an individual’s vision, hearing, and cognitive abilities. Genetic testing, specifically NGS of the TIMM8A gene, is crucial for accurate diagnosis. Although there is currently no cure for the disease, supportive care can help manage symptoms and improve quality of life. If you or a loved one are experiencing symptoms of TIMM8A Gene Opticoacoustic Nerve Atrophy with Dementia, it is important to speak with a healthcare professional to determine the best course of action.
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 TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic Test
| Test Name | TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | ENT Doctor |
| Pre-test Information | Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic Test gene GJB15 |
| Disease | Ear Nose Throat Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB2 Gene Deafness with keratopachydermia and constrictions of fingers and toes NGS Genetic Test gene GJB15 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TIMM8A Gene Opticoacoustic nerve atrophy with dementia 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.
