ABCD4 Gene Methylmalonic Aciduria CblJ Type NGS Genetic Test Cost INR 20000: Symptoms and Diagnosis
ABCD4 gene is responsible for the production of a protein known as adenosine triphosphate-binding cassette sub-family D member 4 (ABCD4). This protein plays an essential role in the transportation of vitamin B12 into cells. Methylmalonic aciduria CblJ type is a genetic disorder that occurs when the ABCD4 gene is mutated or absent. This disorder leads to the accumulation of toxic levels of methylmalonic acid in the blood and urine, leading to severe health complications.
Symptoms of Methylmalonic Aciduria CblJ Type
The symptoms of methylmalonic aciduria CblJ type can vary depending on the severity of the disorder. Some of the common symptoms include:
- Vomiting
- Poor feeding and growth
- Developmental delays
- Muscle weakness
- Seizures
- Intellectual disability
- Abnormal movements
Diagnosis of Methylmalonic Aciduria CblJ Type
The diagnosis of methylmalonic aciduria CblJ type is usually done through genetic testing. The NGS Genetic Test is the most commonly used test for the diagnosis of this disorder. This test looks for mutations in the ABCD4 gene that are responsible for the disorder. The test is done by taking a blood sample, and the results are usually available within a few weeks.
Cost of NGS Genetic Test for Methylmalonic Aciduria CblJ Type
The cost of the NGS Genetic Test for Methylmalonic Aciduria CblJ Type in India is around INR 20,000. The cost may vary depending on the laboratory and the location.
Conclusion
Methylmalonic aciduria CblJ type is a severe genetic disorder that can lead to severe health complications if left untreated. Early diagnosis through genetic testing is essential for the management of this disorder. The NGS Genetic Test is the most commonly used test for the diagnosis of this disorder, and it is available in India at a cost of around INR 20,000. If you or your loved one is experiencing any of the symptoms mentioned above, it is essential to consult a medical professional for further evaluation and testing.
Test Name | ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic Test |
---|---|
Sample type | Blood |
Test type | General Physician |
Pre-test Information | Clinical History of Patient who is going for ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblJ type |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ABCD4 Gene Methylmalonic aciduria CblJ type NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblJ type |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ABCD4 Gene Methylmalonic aciduria CblJ type 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.