MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS VAN DER KNAAP AND NALBAND MLC GENE HOTSPOT MUTATION Test

Megalenphalic Leukoencephalopathy with Subcortical Cysts Van der Knaap and Nalband MLC Gene Hotspot Mutation (MLC) is a rare genetic disorder that affects the brain and central nervous system. It is caused by mutations in the MLC1 or GLIALCAM genes, which control the production of a protein that helps maintain the myelin sheath that surrounds nerve fibers in the brain.

The disorder is characterized by the growth of cysts in the brain’s white matter, which can cause damage to the brain’s structure and function. Symptoms of MLC can vary widely, but generally include developmental delays, seizures, muscle weakness, and movement disorders. The condition is typically diagnosed through a combination of clinical evaluation, genetic testing, and brain imaging studies.

Symptoms of MLC

• Developmental delays
• Seizures
• Muscle weakness
• Movement disorders
• Speech and language impairments
• Visual and hearing impairments
• Behavioral problems
• Cognitive impairment

Diagnosing MLC

Diagnosing MLC usually involves a combination of clinical evaluation, genetic testing, and brain imaging studies. A thorough medical history and physical examination will be conducted to evaluate the patient’s symptoms and rule out other possible causes. Genetic testing can confirm the presence of MLC1 or GLIALCAM gene mutations.

Brain imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans can detect the presence of cysts in the brain’s white matter. These imaging studies can also help evaluate the extent of brain damage and guide treatment decisions.

Test Cost

The cost for the MLC gene hotspot mutation test at DNA Labs India is INR 7500. This test is an important diagnostic tool for individuals suspected of having MLC and can help guide treatment decisions and genetic counseling.

Conclusion

MLC is a rare genetic disorder that can cause significant damage to the brain and central nervous system. Symptoms can vary widely and may include developmental delays, seizures, muscle weakness, and movement disorders. Diagnosing MLC typically involves a combination of clinical evaluation, genetic testing, and brain imaging studies. The MLC gene hotspot mutation test at DNA Labs India is an important tool for diagnosing this condition and can help guide treatment decisions and genetic counseling.

It is important to seek medical attention if you or a loved one is experiencing symptoms of MLC or any other neurological disorder. Early diagnosis and treatment can help improve outcomes and quality of life.

For more information about MLC or to schedule a consultation with a genetic counselor, contact DNA Labs India today.

 Note: We offer free home sample collection for online bookings for Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test and the test costs a special discounted price of 7500 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.