DDOST Gene Glycosylation Disorder Type IR: Symptoms, Diagnosis, and NGS Genetic Test Cost

DDOST gene glycosylation disorder type IR is a rare genetic disorder that affects the glycosylation process. Glycosylation is the process of adding sugar molecules to proteins, lipids, and other molecules. This process is critical for the proper functioning of cells and tissues in the body. DDOST gene glycosylation disorder type IR is caused by mutations in the DDOST gene, which provides instructions for making a protein called dolichyl-diphosphooligosaccharide-protein glycosyltransferase subunit. This protein is essential for the glycosylation process.

Symptoms of DDOST Gene Glycosylation Disorder Type IR

The symptoms of DDOST gene glycosylation disorder type IR can vary widely, even among people with the same genetic mutation. Some of the common symptoms include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormalities in brain structure
• Abnormalities in facial features
• Abnormalities in the skeletal system

Some people with DDOST gene glycosylation disorder type IR may also have additional symptoms, such as hearing loss, vision problems, and heart defects.

Diagnosis of DDOST Gene Glycosylation Disorder Type IR

DDOST gene glycosylation disorder type IR is diagnosed using a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may suspect the disorder based on a person’s symptoms and medical history. Genetic testing can confirm the diagnosis by identifying mutations in the DDOST gene. Imaging studies, such as MRI or CT scans, may be used to evaluate abnormalities in the brain or other organs.

NGS Genetic Test Cost for DDOST Gene Glycosylation Disorder Type IR

The cost of NGS Genetic Testing for DDOST gene glycosylation disorder type IR in India is typically around INR 20,000. This test uses next-generation sequencing technology to analyze a person’s DNA and identify mutations in the DDOST gene. The test is typically performed on a blood or saliva sample.

Conclusion

DDOST gene glycosylation disorder type IR is a rare genetic disorder that can cause a wide range of symptoms, including developmental delay, intellectual disability, seizures, and abnormalities in facial features and the skeletal system. The disorder is caused by mutations in the DDOST gene, which is essential for the glycosylation process. Diagnosis is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. NGS Genetic Testing for DDOST gene glycosylation disorder type IR typically costs around INR 20,000 in India.

If you or someone you know is experiencing symptoms of DDOST gene glycosylation disorder type IR, it is important to speak with a doctor or genetic counselor to determine the best course of action.

 Note: We offer free home sample collection for online bookings for DDOST Gene Glycosylation disorder type IR 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.