HHH Syndrome: Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome Test
HHH Syndrome, also known as Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome, is a rare genetic disorder that affects the body’s ability to process certain amino acids. This disorder is caused by mutations in the SLC25A15 gene, which provides instructions for making a protein called the mitochondrial ornithine transporter.
The mitochondrial ornithine transporter is responsible for transporting ornithine, a type of amino acid, into the mitochondria of cells. In people with HHH Syndrome, this transporter is not working properly, which leads to the buildup of ornithine and other amino acids in the blood, liver, and brain. This can cause a range of symptoms, including:
- Hyperammonemia (high levels of ammonia in the blood)
- Hyperornithinemia (high levels of ornithine in the blood)
- Homocitrullinuria (high levels of homocitrulline in the urine)
- Seizures
- Mental retardation
- Coma
Diagnosis of HHH Syndrome typically involves a blood test to measure levels of ornithine, ammonia, and other amino acids. Genetic testing may also be done to confirm the diagnosis and identify the specific mutation responsible for the disorder.
If you suspect that you or a loved one may have HHH Syndrome, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and treatment can help manage symptoms and improve quality of life.
HHH Syndrome Test Cost
The cost of the HHH Syndrome test in India varies depending on the location and the facility where the test is conducted. However, the average cost of the HHH Syndrome test is around INR 9500.
Conclusion
HHH Syndrome is a rare genetic disorder that can cause a range of symptoms, including hyperammonemia, hyperornithinemia, and homocitrullinuria. If you suspect that you or a loved one may have HHH Syndrome, it is important to speak with a healthcare professional to get a proper diagnosis and treatment. The cost of the HHH Syndrome test in India is around INR 9500.
At DNA Labs India, we offer a range of genetic tests to help diagnose and manage genetic disorders like HHH Syndrome. Our team of experienced genetic counselors and technicians work together to provide accurate and timely results. Contact us today to learn more about our services.
Test Name | HHH Syndrome Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome Test |
---|---|
Sample type | 15 mL (10 mL min.) aliquot of random urine in a sterile screw capped container. No preservative required. Ship refrigerated or frozen. Give brief clinical history. |
Test type | Pediatrician, Physician |
Pre-test Information | Give brief clinical history. |
Disease | Inborn errors of metabolism |
Method | LC-MS/MS, GC-MS |
Purpose | NULL |
Preparation | Room Temperature: 6 hrs, Refrigerator:72 hrs, Frozen: 4 weeks |
Fasting | Give brief clinical history. |
Get Reports | Sample Daily by 5 pm; Report 5 days |
Test Price | INR ₹ 9500 |
Note: We offer free home sample collection for online bookings for HHH Syndrome Hyperornithinemia – Hyperammonemia – Homocitrullinuria Syndrome Test and the test costs a special discounted price of 9500 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.