L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction NGS Genetic Test
Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction are rare genetic disorders that affect the central nervous system and gastrointestinal tract, respectively. These disorders are caused by mutations in the L1CAM gene, which provides instructions for making a protein that is important for the development and maintenance of nerve cells and the intestinal lining.
Symptoms
Symptoms of hydrocephalus with aqueductal stenosis may include:
- Headaches
- Nausea and vomiting
- Visual disturbances
- Seizures
- Poor coordination
- Difficulty walking
Symptoms of congenital intestinal pseudoobstruction may include:
- Abdominal pain and distension
- Constipation or diarrhea
- Vomiting
- Poor growth
- Malnutrition
Diagnosis
Diagnosis of hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction is based on clinical examination, imaging studies such as MRI and CT scans, and genetic testing. Genetic testing is particularly important in confirming the diagnosis and identifying the specific mutation in the L1CAM gene.
NGS Genetic Test
DNA Labs India offers NGS Genetic Test for L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction at a cost of INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the L1CAM gene, enabling the detection of mutations that may be missed by other genetic testing methods. This test provides a comprehensive and accurate diagnosis of the disorder, which is important for guiding treatment and management.
Conclusion
Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction are rare genetic disorders that can have serious consequences if left untreated. Early diagnosis and management are important for improving outcomes. DNA Labs India offers NGS Genetic Test for L1CAM Gene Hydrocephalus with Aqueductal Stenosis and Congenital Intestinal Pseudoobstruction at an affordable cost, making genetic testing accessible to all.
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 L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test
Test Name | L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction 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 L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction |
Disease | Neurological Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction 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.