Understanding SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria NGS Genetic Test
D-2- and L-2-hydroxyglutaric aciduria is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the SLC25A1 gene, which encodes for a mitochondrial citrate transporter protein. This protein is responsible for the transport of citrate across the mitochondrial membrane, which is essential for the production of energy in the cell.
Symptoms of SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria
The symptoms of this condition can vary widely between individuals and may include:
- Developmental delay
- Seizures
- Weak muscle tone (hypotonia)
- Intellectual disability
- Abnormal movements
- Speech difficulties
- Uncontrolled muscle contractions (dystonia)
- Behavioral problems
Diagnosis of SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria
Diagnosis of this condition can be challenging due to the wide range of symptoms and the rarity of the disease. A genetic test is required to confirm the presence of mutations in the SLC25A1 gene. This can be done using next-generation sequencing (NGS) technology, which allows for the sequencing of the entire gene in a single test.
SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria NGS Genetic Test Cost
The cost of the SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria NGS Genetic Test in India is INR 20,000. This test is available at DNA Labs India, a leading genetic testing laboratory in the country.
Conclusion
SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric Aciduria is a rare genetic disorder that can cause a wide range of symptoms. Diagnosis of this condition requires genetic testing using NGS technology. DNA Labs India provides this test at an affordable cost, allowing for early detection and treatment of this condition.
| Test Name | SLC25A1 Gene Combined D-2- and 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 SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined D-2- and 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 SLC25A1 Gene Combined D-2- and L-2-hydroxyglutaric aciduria NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined D-2- and 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 SLC25A1 Gene Combined D-2- and 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.
