NRXN1 Gene Pitt-Hopkins Syndrome NGS Genetic Test Cost INR 20000: Symptoms and Diagnosis
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder that affects the development of the brain and causes intellectual disability. It is caused by mutations in the NRXN1 gene. NRXN1 is responsible for encoding a protein that helps in the formation of synapses between neurons in the brain. Mutations in this gene disrupt the normal functioning of the synapses, leading to PTHS.
Symptoms of PTHS
The symptoms of PTHS vary greatly from person to person. However, some common symptoms include:
- Intellectual disability: People with PTHS have intellectual disability ranging from mild to severe.
- Delayed development: Children with PTHS may have delayed development, such as delayed speech and motor skills.
- Seizures: About 80% of people with PTHS have seizures.
- Abnormal breathing: Some people with PTHS have abnormal breathing patterns, such as hyperventilation or breath-holding.
- Distinct facial features: People with PTHS may have a wide mouth, full lips, and a prominent chin.
Diagnosis of PTHS
Diagnosis of PTHS is based on clinical features and genetic testing. A doctor may suspect PTHS based on the symptoms and physical examination. Genetic testing can confirm the diagnosis. The most common genetic test for PTHS is Next-Generation Sequencing (NGS) of the NRXN1 gene.
NGS Genetic Test Cost INR 20000
DNA Labs India offers NGS Genetic Testing for PTHS at a cost of INR 20000. The test is performed on a blood sample. The test can detect mutations in the NRXN1 gene that cause PTHS.
The test is highly accurate and can detect mutations even in cases where other genetic tests have failed. The test is performed in a state-of-the-art laboratory using advanced technology.
Conclusion
PTHS is a rare genetic disorder that affects the development of the brain and causes intellectual disability. It is caused by mutations in the NRXN1 gene. Genetic testing is the most reliable method to diagnose PTHS. DNA Labs India offers NGS Genetic Testing for PTHS at a cost of INR 20000. Early diagnosis of PTHS can help in better management of the condition and improve the quality of life of affected individuals.
For more information about NGS Genetic Testing for PTHS, contact DNA Labs India today.
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 NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test
Test Name | NRXN1 Gene Pitt-Hopkins 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 NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test gene NRXN1 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test gene NRXN1 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for NRXN1 Gene Pitt-Hopkins 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.