Understanding UBE2A Gene Mental Retardation, X-linked Syndromic, Nascimento-type NGS Genetic Test
Mental retardation is a condition that affects a person’s ability to learn, communicate, and function in daily life. It can be caused by various genetic and environmental factors. One of the genetic causes of mental retardation is the UBE2A gene mutation, which leads to X-linked syndromic mental retardation known as Nascimento-type syndrome.
What is the UBE2A gene?
The UBE2A gene is located on the X chromosome and encodes a protein called ubiquitin-conjugating enzyme E2A. This protein plays a crucial role in the degradation of other proteins in the body. It helps attach ubiquitin molecules to proteins that are no longer needed or are damaged, marking them for destruction. This process is essential for maintaining the normal functioning of cells and preventing the accumulation of toxic proteins.
What is Nascimento-type syndrome?
Nascimento-type syndrome is a rare X-linked syndromic form of mental retardation that is caused by a mutation in the UBE2A gene. It was first described in 2006 by Brazilian researchers who identified the genetic mutation in a family with multiple affected individuals. The syndrome is characterized by severe intellectual disability, delayed speech and motor development, facial dysmorphism, and other physical abnormalities such as seizures, joint laxity, and hypotonia.
How is Nascimento-type syndrome diagnosed?
Nascimento-type syndrome can be diagnosed through genetic testing, specifically next-generation sequencing (NGS) technology. This technology allows for the sequencing of multiple genes simultaneously, making it a more efficient and cost-effective method of testing. The UBE2A gene mutation associated with Nascimento-type syndrome can be identified through NGS, which analyzes the patient’s DNA for specific genetic changes.
What are the symptoms of Nascimento-type syndrome?
The symptoms of Nascimento-type syndrome can vary from person to person but often include:
- Severe intellectual disability
- Delayed speech and motor development
- Facial dysmorphism
- Seizures
- Joint laxity
- Hypotonia
- Other physical abnormalities
What is the cost of the NGS Genetic Test for Nascimento-type syndrome?
At DNA Labs India, the cost of the NGS Genetic Test for Nascimento-type syndrome is INR 20,000. This test includes the sequencing of the UBE2A gene and the analysis of the patient’s DNA for specific genetic changes.
Conclusion
Nascimento-type syndrome is a rare X-linked syndromic form of mental retardation caused by a mutation in the UBE2A gene. Genetic testing, specifically NGS technology, can be used to diagnose this condition by analyzing the patient’s DNA for specific genetic changes. At DNA Labs India, the cost of the NGS Genetic Test for Nascimento-type syndrome is INR 20,000. Early diagnosis and intervention can help improve the quality of life for individuals with this condition and their families.
For more information on NGS Genetic Testing and other genetic disorders, please contact DNA Labs India.
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 UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test
| Test Name | UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type 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.
