SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION Test cost INR:14000 symptoms diagnosis
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the muscles responsible for controlling movement. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein essential for the survival of motor neurons.
There are four types of SMA, ranging from type 1 (the most severe and typically fatal in infancy) to type 4 (the mildest and most common adult-onset form).
Symptoms of SMA
The symptoms of SMA vary depending on the type of SMA a person has. However, common symptoms include:
- Weakness and atrophy of the muscles
- Difficulty with crawling, walking, or sitting up
- Trouble breathing and swallowing
- Abnormal curvature of the spine (scoliosis)
- Difficulty with speaking
Diagnosis of SMA
Doctors may suspect SMA based on a patient’s symptoms, family history, and physical examination. However, a definitive diagnosis requires a genetic test to detect the SMN1 mutation. This test can be performed on a blood or saliva sample.
SMA Mutation Detection Test Cost
The cost of the SMA mutation detection test in India is around INR 14,000. However, the cost may vary depending on the testing facility and location.
Conclusion
Early diagnosis of SMA is essential to ensure that patients receive appropriate treatment and support. If you or a loved one are experiencing symptoms of SMA, it is important to speak with a healthcare professional and consider genetic testing.
DNA Labs India offers SMA mutation detection testing at an affordable cost. Contact us today to learn more.
SMA of all types is associated with homozygous mutations in the survival motor neuron 1 gene (SMN1). This test detects homozygous deletion of SMN1 Exon 7 and or Exon 8 which accounts for 95% of SMA.
Test Name | Spinal Muscular Atrophy (SMA) Mutation Detection Test |
---|---|
Sample type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical information requisition form (Form 20) is mandatory. |
Test type | Neurologist |
Pre-test Information | Duly filled Genomics Clinical information requisition form (Form 20) is mandatory. |
Disease | Genetic Disorders |
Method | MLPA |
Purpose | NULL |
Preparation | Room Temperature: NA, Refrigerator:1 week, Frozen: NA |
Fasting | Duly filled Genomics Clinical information requisition form (Form 20) is mandatory. |
Get Reports | Sample Mon by 11 am; Report Sat |
Test Price | INR ₹ 14000 |
Note: We offer free home sample collection for online bookings for Spinal Muscular Atrophy (SMA) Mutation Detection Test and the test costs a special discounted price of 14000 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.