BCKDHA Gene Maple Syrup Urine Disease Type 1A NGS Genetic Test Cost INR:20,000 Symptoms Diagnosis
Maple Syrup Urine Disease (MSUD) is a rare genetic disorder that affects the body’s ability to break down certain amino acids. This disorder is caused by mutations in the BCKDHA gene, which is responsible for producing an enzyme that helps break down these amino acids. When the enzyme is not produced correctly, these amino acids can build up in the body and cause a range of symptoms.
Symptoms of Maple Syrup Urine Disease
The symptoms of MSUD can vary from mild to severe and can appear shortly after birth. Some of the common symptoms of MSUD include:
- Difficulty feeding
- Vomiting
- Poor weight gain
- Weakness
- Lethargy
- Seizures
- Coma
- Maple syrup smell in urine and sweat
Diagnosis of Maple Syrup Urine Disease
MSUD can be diagnosed through genetic testing. The BCKDHA gene can be analyzed through Next-Generation Sequencing (NGS) technology, which can detect mutations in the gene. Diagnosis of MSUD is important, as early detection and treatment can help prevent severe symptoms and improve outcomes.
NGS Genetic Test Cost
The cost of NGS Genetic Testing for the BCKDHA gene is INR 20,000 in India. This test is available at DNA Labs India, a leading genetic testing laboratory in the country. The test can be performed on a blood or saliva sample and results are typically available within 2-3 weeks.
Conclusion
Maple Syrup Urine Disease is a rare genetic disorder that can cause severe symptoms if left untreated. Diagnosis of MSUD through genetic testing is important, as it can help identify the condition early and allow for prompt treatment. The NGS Genetic Test for the BCKDHA gene is available at DNA Labs India for INR 20,000 and can provide accurate results within a few weeks.
If you suspect that you or a loved one may have MSUD or have a family history of the condition, it is important to speak with a genetic counselor and consider genetic testing.
For more information on genetic testing and counseling, visit DNA Labs India’s website.
Test Name | BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
Test type | General Physician |
Pre-test Information | Clinical History of Patient who is going for BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 1a |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Maple syrup urine disease type 1a |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for BCKDHA Gene Maple syrup urine disease type 1a 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.