Nx GEN SEQUENCING: ALKAPTONURIA Test cost INR:23400 symptoms diagnosis
Alkaptonuria is a rare genetic disorder that affects the body’s ability to break down certain amino acids, causing a buildup of a substance called homogentisic acid. This buildup can lead to a variety of symptoms, including joint pain, stiffness, and darkening of the skin and urine. If left untreated, alkaptonuria can cause significant damage to the joints and other organs.
Symptoms of Alkaptonuria
The symptoms of alkaptonuria can vary widely from person to person, and may not appear until adulthood. Some common symptoms include:
- Joint pain and stiffness
- Darkening of the skin and urine
- Heart problems
- Kidney stones
- Eye problems
If you experience any of these symptoms, it’s important to speak with your doctor right away. They may recommend genetic testing to determine if you have alkaptonuria.
Diagnosis of Alkaptonuria
Alkaptonuria is diagnosed through a combination of physical exams, medical history, and genetic testing. Your doctor may ask about your symptoms, family history, and any medications you’re currently taking. They may also perform a urine test to check for high levels of homogentisic acid.
If your doctor suspects you have alkaptonuria, they may recommend genetic testing. This involves analyzing your DNA to look for mutations or changes in the genes that cause alkaptonuria. Nx GEN SEQUENCING is a powerful tool that can be used to identify genetic mutations quickly and accurately.
Alkaptonuria Test Cost
The cost of genetic testing for alkaptonuria can vary depending on the testing method used and the lab that performs the test. At DNA Labs India, we offer Nx GEN SEQUENCING for alkaptonuria testing at a cost of INR 23400. This test analyzes all of the genes associated with alkaptonuria, providing comprehensive results that can help guide treatment and management decisions.
Conclusion
If you’re experiencing symptoms of alkaptonuria, it’s important to speak with your doctor right away. Genetic testing can help confirm a diagnosis and guide treatment decisions. At DNA Labs India, we offer Nx GEN SEQUENCING for alkaptonuria testing at an affordable cost. Contact us today to learn more.
Alkaptonuria is a rare disorder of autosomal recessive inheritance. In this condition urine turns black when exposed to air due to accumulation of Homogentisic acid (HGA). Later in life, patients develop Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin as well as Ochronotic osteoarthropathy. HGD gene provides instructions for making an enzyme called homogentisate oxidase, which helps in the break down of amino acids phenylalanine and tyrosine. Mutations in HGD gene lead to accumulation of homogentisic acid in the body.
Test Name | Nx Gen Sequencing: Alkaptonuria Test |
---|---|
Sample type | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Test type | Neurologist |
Pre-test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Disease | Inherited errors of metabolism |
Method | NGS, Sanger sequencing |
Purpose | *HGD |
Preparation | Room Temperature: 6 hrs, Refrigerator:72 hrs, Frozen: NA |
Fasting | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
Get Reports | Sample Daily by 9 am; Report 40 Working days |
Test Price | INR ₹ 23400 |
Note: We offer free home sample collection for online bookings for Nx Gen Sequencing: Alkaptonuria Test and the test costs a special discounted price of 23400 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.