SKIV2L Gene and Trichohepatoenteric Syndrome Type 2 NGS Genetic Test
Trichohepatoenteric syndrome type 2 (THES2) is a rare genetic disorder that affects multiple systems of the body. It is caused by mutations in the SKIV2L gene, which provides instructions for making a protein involved in a cellular process called RNA interference. THES2 is characterized by hair abnormalities, liver dysfunction, and chronic diarrhea. NGS Genetic Testing can help diagnose THES2 and determine the appropriate treatment options.
Symptoms of Trichohepatoenteric Syndrome Type 2
The symptoms of THES2 can vary widely between individuals and can appear at any age. The most common symptoms include:
- Hair abnormalities, such as sparse hair, brittle hair, and short, broken hairs
- Liver dysfunction, such as elevated liver enzymes, liver fibrosis, and cirrhosis
- Chronic diarrhea, which can lead to malnutrition and weight loss
- Failure to thrive in infants
- Developmental delays
- Recurrent infections
It is important to note that not all individuals with THES2 will have all of these symptoms.
Diagnosis of Trichohepatoenteric Syndrome Type 2
NGS Genetic Testing can help diagnose THES2 by analyzing the SKIV2L gene for mutations. This test can be performed on a blood or saliva sample and can provide a definitive diagnosis for individuals with suspected THES2.
Other diagnostic tests may include:
- Blood tests to evaluate liver function
- Stool tests to evaluate for infections and malabsorption
- Endoscopy to evaluate the gastrointestinal tract
- Imaging studies to evaluate the liver and other organs
Cost of NGS Genetic Test for THES2
The cost of NGS Genetic Testing for THES2 can vary depending on the provider and location. At DNA Labs India, the cost of this test is INR 20,000.
Treatment Options for Trichohepatoenteric Syndrome Type 2
There is currently no cure for THES2, and treatment is focused on managing the symptoms of the condition. Treatment options may include:
- Dietary changes, such as a low-fat diet and vitamin supplements
- Medications to manage diarrhea and improve liver function
- Endoscopic procedures to remove blockages in the gastrointestinal tract
- Liver transplant for individuals with severe liver dysfunction
Conclusion
THES2 is a rare genetic disorder caused by mutations in the SKIV2L gene. Symptoms of the condition can include hair abnormalities, liver dysfunction, and chronic diarrhea. NGS Genetic Testing can help diagnose THES2, and treatment is focused on managing the symptoms of the condition. If you suspect you or a loved one may have THES2, speak with a healthcare provider about the appropriate diagnostic and treatment options.
At DNA Labs India, we offer NGS Genetic Testing for THES2 and other genetic disorders. Contact us today to learn more.
| Test Name | SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test gene SKIV2L |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test gene SKIV2L |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SKIV2L Gene Trichohepatoenteric syndrome type 2 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.
