Understanding Spinal Muscular Atrophy Type 1 and the Importance of SMN1 Gene NGS Genetic Test
Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord and brainstem. It is caused by a mutation in the SMN1 gene, which produces a protein that is essential for the survival of motor neurons. SMA type 1 is the most severe form of the disease, and it typically appears in infants within the first few months of life.
Symptoms of SMA Type 1
The symptoms of SMA type 1 are usually evident within the first few months of life. Infants with this condition typically have weak muscles, including those responsible for breathing and swallowing. They may also have trouble controlling their head movements and sitting up without support. Other symptoms may include:
- Difficulty breathing
- Floppy limbs
- Weak cry
- Trouble feeding
- Difficulty swallowing
Without treatment, SMA type 1 can be life-threatening. Therefore, it is crucial to diagnose the condition as early as possible.
Diagnosing SMA Type 1
Diagnosing SMA type 1 typically involves a combination of physical exams, medical history, and genetic testing. A doctor may also perform a muscle biopsy or electromyography (EMG) to evaluate muscle function and detect any abnormalities.
Importance of SMN1 Gene NGS Genetic Test
The SMN1 gene NGS Genetic Test is a diagnostic tool that can detect mutations in the SMN1 gene. This test is particularly important for infants with a family history of SMA or those who exhibit symptoms of the condition.
The SMN1 gene NGS Genetic Test is a non-invasive procedure that involves taking a sample of blood or saliva from the patient. The sample is then analyzed in a laboratory to detect any abnormalities in the SMN1 gene.
Cost of SMN1 Gene NGS Genetic Test
The cost of the SMN1 Gene NGS Genetic Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory conducting the test.
Conclusion
Spinal Muscular Atrophy Type 1 is a severe genetic disorder that can be life-threatening if left untreated. Early diagnosis and treatment are crucial for managing the symptoms of the condition and improving the patient’s quality of life. The SMN1 Gene NGS Genetic Test is a valuable diagnostic tool that can help detect mutations in the SMN1 gene and aid in the early diagnosis of SMA Type 1. With a cost of approximately INR 20,000, this test is a worthwhile investment for families with a history of SMA or infants exhibiting symptoms of the condition.
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 SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test
| Test Name | SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test |
|---|---|
| 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 SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SMN1 Gene Spinal muscular atrophy type 1 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SMN1 Gene Spinal muscular atrophy type 1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SMN1 Gene Spinal muscular atrophy type 1 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.
