MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test cost INR:20000 symptoms diagnosis
MMACHC Gene Methylmalonic aciduria CblC type is a rare genetic disorder that affects the body’s ability to break down certain amino acids and fatty acids. It is caused by mutations in the MMACHC gene and can lead to a buildup of toxic substances in the body. The disorder can cause a range of symptoms, including developmental delays, seizures, and anemia.
Diagnosis of MMACHC Gene Methylmalonic aciduria CblC type can be challenging, as symptoms can vary widely and may be mistaken for other conditions. However, genetic testing can help identify the specific mutation causing the disorder.
NGS Genetic Test for MMACHC Gene Methylmalonic aciduria CblC type
NGS (Next Generation Sequencing) Genetic Test is a highly accurate and advanced method of genetic testing that can identify mutations in the MMACHC gene. This type of testing can provide a more complete picture of an individual’s genetic makeup and can help identify the specific mutation causing the disorder.
The cost of the NGS Genetic Test for MMACHC Gene Methylmalonic aciduria CblC type is INR 20000. This cost may vary depending on the testing facility and any additional services that may be required.
Symptoms of MMACHC Gene Methylmalonic aciduria CblC type
The symptoms of MMACHC Gene Methylmalonic aciduria CblC type can vary widely and may include:
- Developmental delays
- Seizures
- Anemia
- Muscle weakness
- Poor appetite
- Vomiting
- Enlarged liver
- Enlarged spleen
These symptoms can be present from birth or may develop later in life. The severity of symptoms can also vary widely, from mild to life-threatening.
Diagnosis of MMACHC Gene Methylmalonic aciduria CblC type
Diagnosis of MMACHC Gene Methylmalonic aciduria CblC type can be challenging, as symptoms can vary widely and may be mistaken for other conditions. However, genetic testing can help identify the specific mutation causing the disorder.
Other diagnostic tests that may be used include:
- Blood tests to measure levels of certain amino acids and fatty acids
- Urine tests to measure levels of certain amino acids and fatty acids
- MRI or CT scans to evaluate brain and organ function
If you or a loved one is experiencing symptoms of MMACHC Gene Methylmalonic aciduria CblC type, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life.
Conclusion
MMACHC Gene Methylmalonic aciduria CblC type is a rare genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and anemia. Diagnosis can be challenging, but genetic testing can help identify the specific mutation causing the disorder. The cost of the NGS Genetic Test for MMACHC Gene Methylmalonic aciduria CblC type is INR 20000.
If you suspect that you or a loved one may have MMACHC Gene Methylmalonic aciduria CblC type, it is important to speak with a healthcare professional as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life.
| Test Name | MMACHC Gene Methylmalonic aciduria CblC type 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 MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblC type |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonic aciduria CblC type |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MMACHC Gene Methylmalonic aciduria CblC type 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.
