AMACR Gene Bile Acid Synthesis Defect Type 4: Symptoms, Diagnosis, and NGS Genetic Test Cost in India
AMACR gene bile acid synthesis defect type 4 is a rare genetic disorder that affects the synthesis of bile acid. It is a congenital disorder that is caused by mutations in the AMACR gene. This gene is responsible for the production of an enzyme that is involved in the synthesis of bile acid in the liver.
Symptoms of AMACR gene bile acid synthesis defect type 4 may include:
- Jaundice
- Pale stools
- Dark urine
- Itching
- Abdominal pain
- Failure to thrive
If left untreated, this condition can lead to liver failure, cirrhosis, and other serious complications. Therefore, it is important to get a proper diagnosis and treatment as soon as possible.
Diagnosis of AMACR Gene Bile Acid Synthesis Defect Type 4
The diagnosis of AMACR gene bile acid synthesis defect type 4 is usually made through a combination of clinical evaluation, laboratory tests, and genetic testing.
During the clinical evaluation, your doctor will ask about your symptoms and medical history. They may also perform a physical exam to check for signs of liver disease.
Laboratory tests may include:
- Blood tests to check liver function
- Urine tests to check for bilirubin levels
- Stool tests to check for the presence of bile
Genetic testing may be recommended to confirm the diagnosis and identify the specific mutation in the AMACR gene. This can be done through a Next-Generation Sequencing (NGS) Genetic Test.
NGS Genetic Test Cost in India
The cost of an NGS Genetic Test for AMACR gene bile acid synthesis defect type 4 in India may vary depending on the laboratory and location. However, the average cost is around INR 20,000.
This test is usually covered by health insurance if it is deemed medically necessary. It is important to check with your insurance provider to see if they cover genetic testing.
Conclusion
If you or a loved one is experiencing symptoms of AMACR gene bile acid synthesis defect type 4, it is important to seek medical attention as soon as possible. A proper diagnosis and treatment can help prevent serious complications and improve quality of life.
An NGS Genetic Test may be recommended to confirm the diagnosis and identify the specific mutation in the AMACR gene. The cost of this test in India is around INR 20,000, and it may be covered by health insurance if deemed medically necessary.
At DNA Labs India, we offer a range of genetic testing services to help diagnose and treat genetic disorders. Contact us today to learn more.
| Test Name | AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 4, congenital |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for AMACR Gene Bile acid synthesis defect type 4, congenital NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Bile acid synthesis defect type 4, congenital |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for AMACR Gene Bile acid synthesis defect type 4, congenital 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.
