ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy NGS Genetic Test
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the ASAH1 gene, which provides instructions for making an enzyme called acid ceramidase. This enzyme is essential for the breakdown of a fatty substance called ceramide, which is involved in many cellular processes. When the ASAH1 gene is mutated, it leads to the accumulation of ceramide in the body, which damages the nervous system and causes the symptoms of SMA-PME.
Symptoms of SMA-PME
The symptoms of SMA-PME can vary widely depending on the severity of the condition. Some common symptoms include:
- Muscle weakness and wasting
- Tremors and involuntary movements (myoclonus)
- Seizures
- Intellectual disability and developmental delays
- Speech and language difficulties
Diagnosis of SMA-PME
Diagnosing SMA-PME can be challenging, as it is a rare disorder that shares symptoms with other neurological conditions. However, genetic testing can help to confirm a diagnosis of SMA-PME. The ASAH1 gene NGS Genetic Test is a highly accurate and specific test that can detect mutations in the ASAH1 gene associated with SMA-PME. This test involves sequencing the entire ASAH1 gene to identify any mutations that may be present.
Cost of ASAH1 Gene NGS Genetic Test
The cost of the ASAH1 Gene 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 India. DNA Labs India uses state-of-the-art technology and the latest testing methods to provide accurate and reliable results.
Conclusion
If you or a loved one is experiencing symptoms of SMA-PME, it is important to seek medical attention and consider genetic testing. The ASAH1 Gene NGS Genetic Test can provide valuable information for diagnosis and treatment planning, and is available at an affordable cost through DNA Labs India.
For more information about the ASAH1 Gene NGS Genetic Test or to schedule an appointment, contact DNA Labs India today.
Test Name | ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test |
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Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
Test type | Neurologist |
Pre-test Information | Clinical History of Patient who is going for ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy 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.