SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test cost INR:20000 symptoms diagnosis
Are you concerned about your risk of developing Niemann-Pick disease type A/B? Do you have a family history of this genetic condition? DNA Labs India offers an NGS Genetic Test for the SMPD1 gene, which can help diagnose Niemann-Pick disease type A/B and provide insight into your risk of developing this condition.
What is Niemann-Pick disease type A/B?
Niemann-Pick disease type A/B is a rare genetic disorder that affects the body’s ability to metabolize lipids, leading to the accumulation of lipids in organs such as the liver, spleen, and brain. This buildup can cause a wide range of symptoms, including developmental delays, seizures, enlarged liver and spleen, and difficulty swallowing or breathing.
Niemann-Pick disease type A/B is caused by mutations in the SMPD1 gene, which provides instructions for producing an enzyme called acid sphingomyelinase. Without this enzyme, lipids cannot be properly broken down and eliminated from the body.
Symptoms of Niemann-Pick disease type A/B
The symptoms of Niemann-Pick disease type A/B can vary widely from person to person, and may include:
- Developmental delays
- Enlarged liver and spleen
- Difficulty swallowing or breathing
- Seizures
- Loss of motor skills
- Eye movement problems
- Yellowing of the skin and whites of the eyes (jaundice)
Diagnosing Niemann-Pick disease type A/B
If you are experiencing symptoms of Niemann-Pick disease type A/B, or if you have a family history of the condition, it is important to seek medical attention. Your doctor may recommend a variety of diagnostic tests, including:
- Blood tests to measure levels of acid sphingomyelinase
- Genetic testing to look for mutations in the SMPD1 gene
- Imaging tests, such as X-rays or CT scans, to look for signs of lipid buildup in the body
NGS Genetic Test for the SMPD1 gene
The NGS Genetic Test for the SMPD1 gene offered by DNA Labs India is a simple and non-invasive way to determine your risk of developing Niemann-Pick disease type A/B. This test uses next-generation sequencing (NGS) technology to analyze your DNA and look for mutations in the SMPD1 gene.
The cost of this test is INR 20000, and results are typically available within a few weeks. If you test positive for mutations in the SMPD1 gene, your doctor may recommend additional testing or treatment options to manage your symptoms and reduce your risk of complications.
Conclusion
Niemann-Pick disease type A/B is a rare genetic condition that can cause a wide range of symptoms and complications. If you are concerned about your risk of developing this condition, or if you have a family history of Niemann-Pick disease type A/B, consider getting tested for mutations in the SMPD1 gene. DNA Labs India offers an NGS Genetic Test for the SMPD1 gene that is affordable, accurate, and non-invasive. Contact us today to learn more.
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 SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test
| Test Name | SMPD1 Gene Niemann-Pick disease type A/B 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 SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type A/B |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SMPD1 Gene Niemann-Pick disease type A/B NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Niemann-Pick disease type A/B |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SMPD1 Gene Niemann-Pick disease type A/B 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.
