SMARCA2 Gene and Nicolaides Baraitser Syndrome: Symptoms, Diagnosis, and NGS Genetic Test Cost
SMARCA2 gene is a gene that codes for a protein that plays a crucial role in the development and maintenance of brain function. Any mutations in this gene can lead to Nicolaides Baraitser Syndrome (NCBRS), a rare genetic disorder that affects the development of the brain and causes intellectual disability, seizures, and other physical abnormalities.
Symptoms of NCBRS
The symptoms of NCBRS can vary from person to person, but some of the common symptoms include:
- Intellectual disability
- Delayed speech and language development
- Seizures
- Abnormalities in the shape and size of the head
- Facial dysmorphism
- Abnormalities in the hands and feet
- Joint stiffness and limited mobility
Diagnosis of NCBRS
Diagnosing NCBRS can be challenging as it is a rare disorder and the symptoms can be similar to other conditions. However, genetic testing is the most reliable way to diagnose NCBRS. Next-generation sequencing (NGS) Genetic Test is a highly sensitive and specific test that can detect mutations in the SMARCA2 gene.
NGS Genetic Test analyzes the entire SMARCA2 gene and detects any variations or mutations that may be causing NCBRS. The test can also detect any new mutations that may not have been previously identified.
Cost of NGS Genetic Test for NCBRS
The cost of NGS Genetic Test for NCBRS can vary depending on the laboratory and location. In India, the cost of NGS Genetic Test for NCBRS is around INR 20,000.
Conclusion
NCBRS is a rare genetic disorder caused by mutations in the SMARCA2 gene. The symptoms of NCBRS can vary, and genetic testing is the most reliable way to diagnose the condition. NGS Genetic Test is a highly sensitive and specific test that can detect mutations in the SMARCA2 gene. The cost of NGS Genetic Test for NCBRS in India is around INR 20,000. Early diagnosis and management of NCBRS can help improve the quality of life for people with this condition.
If you suspect that you or your child may have NCBRS, consult with a genetic counselor or healthcare provider to discuss the diagnosis and treatment options.
For more information on genetic testing and NCBRS, 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 SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test
Test Name | SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
Test type | Pediatrics |
Pre-test Information | Clinical History of Patient who is going for SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test gene SMARCA2 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test gene SMARCA2 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SMARCA2 Gene Nicolaides Baraitser syndrome 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.