RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Coffin-Lowry Syndrome is a rare genetic disorder that affects the X chromosome. The syndrome primarily affects males and is characterized by intellectual disability, facial and skeletal abnormalities, and delayed growth and development. The syndrome is caused by a mutation in the RPS6KA3 gene, which encodes for a protein that is involved in the signaling pathways within cells.
Symptoms of Coffin-Lowry Syndrome
The symptoms of Coffin-Lowry Syndrome can vary widely from person to person, but some of the most common symptoms include:
- Intellectual disability
- Delayed speech and language development
- Facial abnormalities, including a prominent forehead, wide-set eyes, and a down-turned mouth
- Skeletal abnormalities, including short stature, scoliosis, and abnormal curvature of the spine
- Hyperactive behavior
Diagnosis of Coffin-Lowry Syndrome
Coffin-Lowry Syndrome is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor will perform a physical examination to look for characteristic facial and skeletal abnormalities, and will also review the patient’s medical history to look for developmental delays and other symptoms of the syndrome. Genetic testing, such as NGS Genetic Test, can be used to confirm a diagnosis of Coffin-Lowry Syndrome by identifying mutations in the RPS6KA3 gene.
Cost of NGS Genetic Test for Coffin-Lowry Syndrome
The cost of NGS Genetic Test for Coffin-Lowry Syndrome can vary depending on the testing facility and location. In India, the cost of the test typically ranges from INR 20,000 to INR 30,000. It is important to check with your insurance provider to see if the test is covered by your plan, as some insurance plans may cover the cost of genetic testing.
Conclusion
Coffin-Lowry Syndrome is a rare genetic disorder that can cause significant developmental delays and physical abnormalities. While there is no cure for the syndrome, early diagnosis and intervention can help improve outcomes for affected individuals. NGS Genetic Test can be used to confirm a diagnosis of Coffin-Lowry Syndrome and can help guide treatment and management of the syndrome. If you suspect that you or a loved one may have Coffin-Lowry Syndrome, it is important to consult with a doctor and undergo genetic testing to confirm a diagnosis and develop a treatment plan.
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 RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test
Test Name | RPS6KA3 Gene Coffin-Lowry syndrome 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 RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPS6KA3 Gene Coffin-Lowry syndrome |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RPS6KA3 Gene Coffin-Lowry syndrome |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for RPS6KA3 Gene Coffin-Lowry 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.