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EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test Cost

Original price was: ₹28,000.Current price is: ₹20,000.

-29%

NGS Genetic Test detecets for variant and mutation detection in EP300 gene for Rubinstein-Taybi syndrome

Free Sample collection at your home for all online bookings

  • 100% Accurate Test Results
  • Book test before 2.30pm for same day Sample Collection
  • Get Tested at India No1 Genetic DNA Lab
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EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic Test Cost INR 20000 Symptoms Diagnosis

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the EP300 gene, which provides instructions for making a protein called p300. The p300 protein plays a crucial role in the regulation of gene expression, which is the process by which genes are turned on and off in response to the body’s needs.

RTS is characterized by distinctive facial features, intellectual disability, broad thumbs and toes, and other physical abnormalities. The severity of the symptoms can vary greatly from person to person, even among those with the same EP300 mutation.

NGS Genetic Testing is a powerful tool for diagnosing RTS. It involves sequencing the entire EP300 gene to identify any mutations that may be present. This allows for a more accurate diagnosis than traditional genetic testing methods.

Cost of EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic Test

In India, the cost of EP300 Gene Rubinstein-Taybi Syndrome NGS Genetic Test is INR 20000. This cost may vary depending on the testing facility and location.

Symptoms of Rubinstein-Taybi Syndrome

The symptoms of Rubinstein-Taybi Syndrome can vary greatly from person to person, but may include:

  • Distinctive facial features, including a prominent forehead, widely spaced eyes, and a broad nose
  • Intellectual disability
  • Delayed speech and language development
  • Short stature
  • Broad thumbs and toes
  • Scoliosis or other spinal abnormalities
  • Heart defects
  • Recurrent infections

Diagnosis of Rubinstein-Taybi Syndrome

Diagnosing Rubinstein-Taybi Syndrome can be challenging, as the symptoms can be similar to those of other genetic disorders. However, NGS Genetic Testing is a powerful tool for identifying mutations in the EP300 gene that are associated with RTS.

If a child is suspected of having RTS, they may undergo a physical examination, developmental evaluation, and genetic testing to confirm the diagnosis.

Conclusion

Rubinstein-Taybi Syndrome is a rare genetic disorder that can cause a variety of physical and intellectual disabilities. NGS Genetic Testing is a powerful tool for diagnosing RTS and identifying mutations in the EP300 gene that may be causing the disorder. If you suspect that you or your child may have RTS, it is important to speak with a healthcare professional to determine the best course of action.

For more information on NGS Genetic Testing for Rubinstein-Taybi Syndrome, contact DNA Labs India.

Test NameEP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test
Sample typeBlood or Extracted DNA or One drop Blood on FTA Card
Test typePediatrics
Pre-test InformationClinical History of Patient who is going for EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test gene EP300
DiseaseDysmorphology
MethodNGS Technology
PurposeNULL
PreparationAmbient Room Temperature
FastingClinical History of Patient who is going for EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test gene EP300
Get Reports3 to 4 Weeks
Test PriceINR ₹ 20000

 Note: We offer free home sample collection for online bookings for EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test and the test costs 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.