SLC6A9 Gene Glycine Encephalopathy: Symptoms, Diagnosis, and NGS Genetic Test Cost
Glycine encephalopathy is a rare genetic disorder that affects the central nervous system. It is caused by a mutation in the SLC6A9 gene, which is responsible for producing a protein that helps transport glycine, an amino acid, across the blood-brain barrier. When this protein is defective, glycine accumulates in the brain and causes damage to nerve cells, leading to a range of symptoms.
Symptoms of Glycine Encephalopathy
The symptoms of glycine encephalopathy can vary widely, depending on the severity of the disorder and the age of onset. In some cases, the condition may be fatal in infancy, while in others, it may not become apparent until later in life. Some common symptoms of glycine encephalopathy include:
- Seizures
- Hypotonia (low muscle tone)
- Developmental delay
- Mental retardation
- Hyperactivity
- Ataxia (loss of muscle coordination)
- Respiratory distress
Diagnosis of Glycine Encephalopathy
Diagnosis of glycine encephalopathy can be difficult, as the symptoms can be similar to those of other neurological disorders. However, there are several tests that can help to confirm the diagnosis, including:
- Blood tests to measure serum glycine levels
- Urine tests to measure glycine excretion
- Brain imaging studies, such as MRI or CT scans
- Genetic testing to identify mutations in the SLC6A9 gene
NGS Genetic Test for SLC6A9 Gene Glycine Encephalopathy
NGS (next-generation sequencing) genetic testing is a powerful tool for identifying genetic mutations associated with glycine encephalopathy. This test uses advanced DNA sequencing technology to rapidly analyze large amounts of genetic data, allowing for more accurate and comprehensive testing.
The cost of NGS Genetic Testing for SLC6A9 gene glycine encephalopathy varies depending on the provider, but typically ranges from INR 20,000 to INR 50,000. It is important to choose a reputable provider with experience in genetic testing to ensure accurate results.
Conclusion
Glycine encephalopathy is a rare genetic disorder that can have serious neurological effects. Early diagnosis and treatment are critical for improving outcomes, and NGS genetic testing can be a valuable tool in identifying the underlying genetic mutations. If you or a loved one are experiencing symptoms of glycine encephalopathy, it is important to consult with a qualified healthcare provider and consider genetic testing to guide treatment decisions.
At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for SLC6A9 gene glycine encephalopathy. Contact us today to learn more about our services and how we can help.
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 SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test
| Test Name | SLC6A9 Gene Glycine encephalopathy with normal serum glycine 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 SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycine encephalopathy with normal serum glycine |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SLC6A9 Gene Glycine encephalopathy with normal serum glycine NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycine encephalopathy with normal serum glycine |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SLC6A9 Gene Glycine encephalopathy with normal serum glycine 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.
