HMBS Gene Porphyria Acute Intermittent NGS Genetic Test: Symptoms, Diagnosis, and Cost in India
Porphyria is a group of genetic disorders that affect the production of heme, a component of hemoglobin that carries oxygen in the blood. Porphyria can be acute or cutaneous, depending on the symptoms and the location of the affected tissues. Acute porphyria is a rare condition that can cause severe abdominal pain, muscle weakness, and confusion. It is caused by mutations in different genes, including the HMBS gene.
The HMBS gene provides instructions for making an enzyme called hydroxymethylbilane synthase, which is involved in the production of heme. Mutations in the HMBS gene can impair the function of this enzyme and lead to the accumulation of toxic intermediates that can cause damage to the nervous system and other organs.
Symptoms of HMBS Gene Porphyria Acute Intermittent
The symptoms of HMBS gene porphyria acute intermittent can vary from person to person and may include:
- Abdominal pain
- Nausea and vomiting
- Muscle weakness and cramps
- Confusion and hallucinations
- Sensitivity to light and skin rashes
These symptoms can be triggered by certain factors, such as fasting, stress, infections, and medications. Therefore, it is important to identify the underlying genetic cause of acute porphyria to avoid these triggers and prevent complications.
Diagnosis of HMBS Gene Porphyria Acute Intermittent
The diagnosis of HMBS gene porphyria acute intermittent involves several steps, including:
- Medical history and physical examination
- Urine and blood tests to detect the presence of porphyrins and their precursors
- Genetic testing to identify mutations in the HMBS gene
Genetic testing can be done using different methods, such as Sanger sequencing and next-generation sequencing (NGS). NGS is a faster and more comprehensive method that can analyze multiple genes simultaneously and detect rare variants that may be missed by other methods.
Cost of HMBS Gene Porphyria Acute Intermittent NGS Genetic Test in India
The cost of HMBS gene porphyria acute intermittent NGS Genetic Test in India may vary depending on the laboratory and the type of test. Generally, the cost ranges from INR 20,000 to INR 30,000.
DNA Labs India is a leading provider of genetic testing services in India that offers a wide range of NGS-based tests for different genetic disorders, including porphyria. Their HMBS gene porphyria acute intermittent NGS Genetic Test is accurate, reliable, and affordable, and can provide valuable information for the diagnosis, management, and prevention of this rare condition.
Conclusion
HMBS gene porphyria acute intermittent is a rare genetic disorder that can cause severe symptoms and complications if not properly diagnosed and treated. Genetic testing, especially NGS-based testing, can be a valuable tool for identifying the underlying genetic cause of acute porphyria and providing personalized care for affected individuals and their families.
If you suspect that you or a loved one may have HMBS gene porphyria acute intermittent, talk to your healthcare provider or contact DNA Labs India for more information about their genetic testing services.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for HMBS Gene Porphyria acute intermittent NGS Genetic Test
| Test Name | HMBS Gene Porphyria acute intermittent 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 HMBS Gene Porphyria acute intermittent NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria acute intermittent |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for HMBS Gene Porphyria acute intermittent NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Porphyria acute intermittent |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for HMBS Gene Porphyria acute intermittent 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.
