PMM2 Gene Glycosylation Disorder Type 1A: Symptoms, Diagnosis and NGS Genetic Test Cost in India
Glycosylation is a process in which sugar molecules are attached to proteins and lipids, which is essential for the proper functioning of the body. PMM2 gene glycosylation disorder type 1A is a rare genetic disorder that affects this process, leading to a range of symptoms. This disorder is caused by mutations in the PMM2 gene, which provides instructions for making an enzyme called phosphomannomutase 2. This enzyme is essential for the production of properly functioning sugar molecules.
Symptoms of PMM2 Gene Glycosylation Disorder Type 1A
The symptoms of PMM2 gene glycosylation disorder type 1A can vary widely depending on the severity of the condition. Some individuals may have mild symptoms, while others may have severe symptoms that can be life-threatening. Some common symptoms include:
- Developmental delays
- Intellectual disability
- Abnormal facial features
- Seizures
- Weak muscle tone
- Recurrent infections
- Bleeding disorders
Diagnosis of PMM2 Gene Glycosylation Disorder Type 1A
PMM2 gene glycosylation disorder type 1A is diagnosed through genetic testing. Next Generation Sequencing (NGS) Genetic Testing is the most advanced and reliable method for diagnosing this disorder. The NGS test looks for mutations in the PMM2 gene and can provide a definitive diagnosis. NGS is a highly accurate method of genetic testing that can identify mutations in multiple genes at once. It is a non-invasive test that requires only a blood sample or a saliva sample.
NGS Genetic Test Cost in India
The cost of NGS Genetic Testing for PMM2 gene glycosylation disorder type 1A in India can vary depending on the laboratory and the specific test being used. However, on average, the cost of NGS testing for this disorder is around INR 20,000. This is a relatively affordable price compared to other genetic tests.
Conclusion
PMM2 gene glycosylation disorder type 1A is a rare genetic disorder that can cause a range of symptoms. It is diagnosed through genetic testing, and NGS Genetic Testing is the most advanced and reliable method for diagnosing this disorder. The cost of NGS testing for this disorder in India is around INR 20,000, making it a relatively affordable option for individuals who suspect they may have this disorder.
If you suspect that you or someone you know may have PMM2 gene glycosylation disorder type 1A, it is important to speak with a medical professional and consider genetic testing to receive a definitive diagnosis.
Contact DNA Labs India today to learn more about NGS Genetic Testing for PMM2 gene glycosylation disorder type 1A and other genetic disorders.
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 PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test
| Test Name | PMM2 Gene Glycosylation disorder type 1A 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 PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1A |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder type 1A |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PMM2 Gene Glycosylation disorder type 1A 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.
