L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test: Symptoms, Diagnosis, and Cost
L-2-hydroxyglutaric aciduria is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the L2HGDH gene, which encodes an enzyme that is responsible for breaking down L-2-hydroxyglutaric acid in the body. When this enzyme is not functioning correctly, L-2-hydroxyglutaric acid accumulates in the brain and other tissues, causing damage over time.
Symptoms of L-2-hydroxyglutaric aciduria
The symptoms of L-2-hydroxyglutaric aciduria can vary widely and may include:
- Delayed development
- Seizures
- Muscle weakness and stiffness
- Intellectual disability
- Movement disorders
- Speech difficulties
- Behavioral problems
- Vision and hearing problems
The severity of symptoms can also vary, even among people with the same genetic mutation.
Diagnosis of L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria is typically diagnosed through genetic testing, which can identify mutations in the L2HGDH gene. Other tests, such as magnetic resonance imaging (MRI) and spectroscopy (MRS), can help to confirm the diagnosis and assess the extent of brain damage.
L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test
The L2HGDH gene L-2-hydroxyglutaric aciduria NGS Genetic Test is a type of genetic testing that uses next-generation sequencing (NGS) technology to analyze the L2HGDH gene. This test can identify mutations in the gene that cause L-2-hydroxyglutaric aciduria, allowing for an accurate diagnosis of the condition.
Cost of L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test
The cost of the L2HGDH gene L-2-hydroxyglutaric aciduria NGS Genetic Test can vary depending on the testing facility and location. In India, the cost of the test is typically around INR 20,000.
Conclusion
L-2-hydroxyglutaric aciduria is a rare genetic disorder that can cause a range of symptoms, including delayed development, seizures, and intellectual disability. The L2HGDH gene L-2-hydroxyglutaric aciduria NGS Genetic Test is a useful tool for diagnosing the condition and identifying the specific genetic mutation that is responsible. If you or a loved one is experiencing symptoms of L-2-hydroxyglutaric aciduria, talk to your doctor about whether genetic testing may be appropriate.
| Test Name | L2HGDH Gene L-2-hydroxyglutaric aciduria 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 L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with L-2-hydroxyglutaric aciduria |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for L2HGDH Gene L-2-hydroxyglutaric aciduria NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with L-2-hydroxyglutaric aciduria |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for L2HGDH Gene L-2-hydroxyglutaric aciduria 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.
