SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency: Symptoms, Diagnosis, and NGS Genetic Test Cost in India
SLC16A1 gene monocarboxylate transporter 1 deficiency is a rare genetic disorder that affects the transport of lactate and pyruvate in the body. Lactate and pyruvate are important molecules that play a crucial role in energy production in our cells. SLC16A1 gene is responsible for coding the protein that facilitates the transport of lactate and pyruvate across the cell membrane. When this gene is mutated or altered, it results in the deficiency of monocarboxylate transporter 1, which can cause a range of symptoms and health complications.
Symptoms of SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency
The symptoms of SLC16A1 gene monocarboxylate transporter 1 deficiency can vary widely from person to person. Some people may experience mild symptoms, while others may have severe symptoms. Some of the common symptoms of this genetic disorder include:
- Delayed developmental milestones
- Weakness and fatigue
- Muscle pain and cramps
- Abnormal muscle movements
- Seizures
- Intellectual disability
- Autism spectrum disorder
- Speech and language disorders
- Behavioral problems
- Increased lactate levels in blood and urine
It is important to note that not all people with SLC16A1 gene monocarboxylate transporter 1 deficiency will experience all of these symptoms. Some people may only have one or two symptoms, while others may have a combination of several symptoms.
Diagnosis of SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency
SLC16A1 gene monocarboxylate transporter 1 deficiency can be diagnosed through genetic testing. A DNA sample is taken from the patient, and the SLC16A1 gene is sequenced to look for any mutations or alterations. This test is called NGS Genetic Test. If a mutation is found, it confirms the diagnosis of SLC16A1 gene monocarboxylate transporter 1 deficiency.
It is important to note that genetic testing is not always covered by insurance, and the cost of the test can vary depending on the laboratory and location. In India, the cost of NGS Genetic Test for SLC16A1 gene monocarboxylate transporter 1 deficiency is approximately INR 20,000.
Conclusion
SLC16A1 gene monocarboxylate transporter 1 deficiency is a rare genetic disorder that can cause a range of symptoms and health complications. It is important to seek medical attention if you or your child are experiencing any of the symptoms listed above. A genetic test can confirm the diagnosis of SLC16A1 gene monocarboxylate transporter 1 deficiency, and can help guide treatment and management of the condition. While the cost of genetic testing can be a barrier for some people, it is important to consider the potential benefits of early diagnosis and intervention.
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 SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test
| Test Name | SLC16A1 Gene Monocarboxylate transporter 1 deficiency 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 SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Monocarboxylate transporter 1 deficiency |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SLC16A1 Gene Monocarboxylate transporter 1 deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Monocarboxylate transporter 1 deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SLC16A1 Gene Monocarboxylate transporter 1 deficiency 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.
