ABCD3 Gene Bile Acid Synthesis Defect Type 5: Symptoms, Diagnosis, and NGS Genetic Test Cost

ABCD3 Gene Bile Acid Synthesis Defect Type 5 is a rare genetic disorder that affects the body’s ability to produce bile acids. Bile acids are essential for the digestion and absorption of fats in the body. This disorder is caused by mutations in the ABCD3 gene, which is responsible for the transport of bile acids in the liver.

Symptoms of ABCD3 Gene Bile Acid Synthesis Defect Type 5

The symptoms of ABCD3 Gene Bile Acid Synthesis Defect Type 5 can vary from person to person. Some of the common symptoms include:

• Jaundice
• Itching
• Fatigue
• Abdominal pain
• Slow growth and development
• Delayed puberty

These symptoms can appear at any age, from infancy to adulthood. They may also come and go over time.

Diagnosis of ABCD3 Gene Bile Acid Synthesis Defect Type 5

ABCD3 Gene Bile Acid Synthesis Defect Type 5 is diagnosed using a combination of clinical evaluation, blood tests, and genetic testing. The blood tests can detect high levels of bile acids in the blood, while genetic testing can identify mutations in the ABCD3 gene.

NGS Genetic Test is a highly sensitive and specific test that can detect mutations in the ABCD3 gene. This test can provide a definitive diagnosis of ABCD3 Gene Bile Acid Synthesis Defect Type 5. The cost of this test in India is around INR 20,000.

Treatment of ABCD3 Gene Bile Acid Synthesis Defect Type 5

Currently, there is no cure for ABCD3 Gene Bile Acid Synthesis Defect Type 5. Treatment is focused on managing the symptoms and preventing complications. This may include medication to control itching and improve liver function, as well as dietary changes to reduce the amount of fat in the diet.

Conclusion

ABCD3 Gene Bile Acid Synthesis Defect Type 5 is a rare genetic disorder that can cause a range of symptoms, from jaundice to delayed puberty. Early diagnosis and management of the condition can help to prevent complications and improve quality of life. NGS Genetic Test is a reliable and accurate test that can provide a definitive diagnosis of the condition. The cost of this test in India is around INR 20,000.

If you suspect that you or a loved one may have ABCD3 Gene Bile Acid Synthesis Defect Type 5, speak to your doctor about getting tested. With early diagnosis and management, it is possible to live a full and healthy life with this condition.

For more information on genetic testing and DNA labs in India, visit DNA Labs India.

 Note: We offer free home sample collection for online bookings for ABCD3 Gene Bile acid synthesis defect type 5, 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.