ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic Test
ACO2 Gene Cerebellar-retinal degeneration, infantile is a rare genetic disorder that affects the brain and eyes. It is caused by mutations in the ACO2 gene, which provides instructions for making an enzyme called aconitase 2. This enzyme is involved in the production of energy within cells. When the ACO2 gene is mutated, the enzyme does not work properly, leading to a buildup of toxic byproducts within cells, which ultimately leads to the death of cells in the cerebellum and retina.
Symptoms of ACO2 Gene Cerebellar-retinal degeneration, infantile
The symptoms of ACO2 Gene Cerebellar-retinal degeneration, infantile typically begin within the first few months of life. The primary symptoms include:
- Progressive vision loss
- Problems with balance and coordination
- Weak muscle tone
- Intellectual disability
- Seizures
Diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile
Diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile involves a combination of clinical evaluation, genetic testing, and imaging studies. The genetic test for ACO2 Gene Cerebellar-retinal degeneration, infantile is done using Next-generation sequencing (NGS) technology. NGS is a high-throughput method that can analyze large amounts of DNA sequence data quickly and accurately. The test can detect mutations in the ACO2 gene and confirm a diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile.
Cost of NGS Genetic Test
The cost of the NGS Genetic Test for ACO2 Gene Cerebellar-retinal degeneration, infantile in India is approximately INR 20,000. The cost may vary depending on the laboratory or clinic where the test is performed.
Conclusion
ACO2 Gene Cerebellar-retinal degeneration, infantile is a rare genetic disorder that affects the brain and eyes. The disorder can be diagnosed using NGS Genetic Test, which can detect mutations in the ACO2 gene and confirm a diagnosis of ACO2 Gene Cerebellar-retinal degeneration, infantile. The cost of the test is around INR 20,000 in India. Early diagnosis and treatment can help manage symptoms and improve the quality of life for individuals with this condition.
If you suspect that you or your child may have ACO2 Gene Cerebellar-retinal degeneration, infantile, it is important to consult with a genetic counselor or a healthcare provider who specializes in genetics. They can help determine if genetic testing is appropriate and provide guidance on treatment options and management of the condition.
At DNA Labs India, we offer a wide range of genetic tests, including NGS Genetic Test for ACO2 Gene Cerebellar-retinal degeneration, infantile. Our team of genetic counselors and healthcare professionals can provide personalized guidance and support to help you make informed decisions about your health.
Contact us today to learn more about our genetic testing services and how we can help you.
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 ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic Test
| Test Name | ACO2 Gene Cerebellar-Retinal Degeneration, Infantile NGS Genetic Test |
|---|---|
| Sample type | Blood |
| Test type | Ophthalmologist |
| Pre-test Information | Clinical History of Patient who is going for ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic Test gene ACO2 |
| Disease | Ophthalmology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ACO2 Gene Cerebellar-retinal degeneration, infantile NGS Genetic Test gene ACO2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ACO2 Gene Cerebellar-Retinal Degeneration, Infantile 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.
