SSR4 Gene Glycosylation Disorder X-Linked NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
SSR4 Gene Glycosylation Disorder X-Linked is a rare genetic disorder that affects the glycosylation process in the body. This disorder is caused by a mutation in the SSR4 gene, which is located on the X chromosome. As a result, this disorder primarily affects males, as they only have one X chromosome. Females can be carriers of the disorder but do not typically exhibit symptoms.
Symptoms of SSR4 Gene Glycosylation Disorder X-Linked
The symptoms of SSR4 Gene Glycosylation Disorder X-Linked can vary widely from person to person. Some common symptoms include:
- Severe developmental delay
- Intellectual disability
- Hypotonia (low muscle tone)
- Seizures
- Facial dysmorphism (abnormal facial features)
- Microcephaly (small head size)
- Delayed growth and development
Diagnosis of SSR4 Gene Glycosylation Disorder X-Linked
Diagnosis of SSR4 Gene Glycosylation Disorder X-Linked is typically done through genetic testing. Next-generation sequencing (NGS) is a common method used to detect mutations in the SSR4 gene. This test is highly accurate and can identify the specific mutation causing the disorder. The cost of the NGS Genetic Test for SSR4 Gene Glycosylation Disorder X-Linked is typically around INR:20000.
Treatment and Management of SSR4 Gene Glycosylation Disorder X-Linked
Currently, there is no cure for SSR4 Gene Glycosylation Disorder X-Linked. Treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, speech therapy, and medication to control seizures. It is important for individuals with this disorder to receive regular medical care to monitor their health and address any issues that may arise.
Conclusion
SSR4 Gene Glycosylation Disorder X-Linked is a rare genetic disorder that primarily affects males. Symptoms can vary widely from person to person and diagnosis is typically done through genetic testing. While there is no cure for this disorder, treatment and management can help improve quality of life. If you suspect that you or a loved one may have SSR4 Gene Glycosylation Disorder X-Linked, it is important to seek medical care and genetic testing to confirm the diagnosis.
For more information about SSR4 Gene Glycosylation Disorder X-Linked and genetic testing, contact DNA Labs India.
Test Name | SSR4 Gene Glycosylation disorder x-linked 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 SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder x-linked |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for SSR4 Gene Glycosylation disorder x-linked NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Glycosylation disorder x-linked |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SSR4 Gene Glycosylation disorder x-linked 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.