Sickle Cell Anemia Mutation Detection Test: Symptoms, Diagnosis, and Cost
Sickle cell anemia is a genetic disorder that affects the shape of red blood cells, causing them to become sickle-shaped. This can lead to a variety of complications, including pain, infections, and organ damage. The sickle cell anemia mutation detection test is a diagnostic tool used to identify the presence of the genetic mutation that causes this condition.
Symptoms of Sickle Cell Anemia
The symptoms of sickle cell anemia can vary depending on the severity of the condition. Some people may experience mild symptoms, while others may have more severe complications. Some common symptoms of sickle cell anemia include:
- Painful episodes called sickle cell crises
- Fatigue
- Jaundice
- Swelling in the hands and feet
- Infections
- Delayed growth and development in children
- Vision problems
- Organ damage
Diagnosis of Sickle Cell Anemia
The sickle cell anemia mutation detection test is one of the most common ways to diagnose this condition. This test looks for the presence of the genetic mutation that causes sickle cell anemia. It can be performed on a blood sample or a sample of amniotic fluid during pregnancy.
In addition to the mutation detection test, doctors may also perform a physical exam and order other tests to help diagnose sickle cell anemia. These tests may include:
- Complete blood count (CBC)
- Hemoglobin electrophoresis
- Reticulocyte count
- Bilirubin test
Cost of the Sickle Cell Anemia Mutation Detection Test
The cost of the sickle cell anemia mutation detection test can vary depending on the location and the healthcare provider. In India, the cost of this test is typically around INR 4500. However, the cost may be higher or lower depending on the specific provider and any additional tests that are ordered.
Conclusion
The sickle cell anemia mutation detection test is an important diagnostic tool for identifying the genetic mutation that causes this condition. If you are experiencing symptoms of sickle cell anemia, it is important to speak with your healthcare provider about getting tested. With early diagnosis and treatment, people with sickle cell anemia can lead healthy and productive lives.
The genetic disorder is due to the mutation of a single nucleotide, from a GAG to GTG codon on the coding strand. In people heterozygous for HgbS (carriers of sickling haemoglobin), the polymerisation problems are minor, because the normal allele is able to produce over 50% of the haemoglobin. In people homozygous for HgbS, the presence of long-chain polymers of HbS distort the shape of the red blood cell from a smooth doughnut-like shape to ragged and full of spikes, making it fragile and susceptible to breaking within capillaries.
Test Name | Sickle Cell Anemia Mutation Detection Test |
---|---|
Sample type | 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. DO NOT FREEZE. Duly filled Genomics Clinical information requisition form (Form 20) is mandatory. |
Test type | Physician, Hematologist |
Pre-test Information | Duly filled Genomics Clinical information requisition form (Form 20) is mandatory. |
Disease | Sickle cell anemia |
Method | PCR, Sequencing |
Purpose | *HBB |
Preparation | Room Temperature: 6 hrs, Refrigerator:1 week, Frozen: NA |
Fasting | Duly filled Genomics Clinical information requisition form (Form 20) is mandatory. |
Get Reports | Sample Mon by 11 am; Report Fri |
Test Price | INR ₹ 4500 |
Note: We offer free home sample collection for online bookings for Sickle Cell Anemia Mutation Detection Test and the test costs a special discounted price of 4500 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.