ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test
Metachromatic leukodystrophy (MLD) is a genetic disorder that affects the nervous system. It is caused by a deficiency of an enzyme called arylsulfatase A (ARSA) that breaks down a type of fat called sulfatides. As a result, sulfatides build up in the brain and nervous system, causing damage to the myelin sheath that surrounds and protects nerve fibers.
MLD is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The ARSA gene is located on chromosome 22q13.33.
Symptoms
The symptoms of MLD can vary depending on the age of onset and the severity of the disease. In general, the symptoms progress over time and can include:
- Delayed developmental milestones
- Loss of previously acquired skills
- Difficulty walking
- Muscle weakness and stiffness
- Seizures
- Vision loss
- Behavioral changes
- Dementia
There are three forms of MLD: late infantile, juvenile, and adult onset. The late infantile form is the most common and typically begins between 6 months and 2 years of age. The juvenile form begins between 3 and 16 years of age, and the adult onset form can begin anytime after age 16.
Diagnosis
MLD can be diagnosed through a variety of methods, including:
- Physical exam and medical history
- Neurological exam
- MRI or CT scan of the brain
- Nerve conduction studies
- Genetic testing
Genetic testing is the most definitive method of diagnosis and can identify mutations in the ARSA gene. Next-generation sequencing (NGS) is a powerful tool for genetic testing and can analyze multiple genes simultaneously. NGS can also detect rare and novel mutations that may be missed by other methods.
ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test Cost
The cost of the ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test in India is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.
Conclusion
Metachromatic leukodystrophy is a rare but devastating genetic disorder that affects the nervous system. Early diagnosis is important for effective management and treatment. The ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test is a reliable and cost-effective method of diagnosis that can help families get the answers they need.
If you suspect that you or a loved one may be affected by MLD, contact DNA Labs India today to schedule a test.
Test Name | ARSA Gene Metachromatic Leukodystrophy 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 ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Metachromatic Leukodystrophy |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ARSA Gene Metachromatic Leukodystrophy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Metachromatic Leukodystrophy |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ARSA Gene Metachromatic Leukodystrophy 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.