CLPB Gene 3-methylglutaconic aciduria type 7: Symptoms, Diagnosis and NGS Genetic Test Cost
3-methylglutaconic aciduria type 7 (MGCA7) is a rare genetic disorder that affects the body’s ability to break down certain amino acids. This disorder is caused by mutations in the CLPB gene, which provides instructions for making a protein that helps with the folding and assembly of other proteins.
MGCA7 is characterized by a range of symptoms, including cataracts, neurologic involvement, and neutropenia. Cataracts are a clouding of the eye’s lens, which can cause blurry vision and difficulty seeing in low light. Neurologic involvement can include developmental delay, intellectual disability, and movement disorders. Neutropenia is a condition in which the body has a low number of neutrophils, a type of white blood cell that helps fight infections.
Symptoms of CLPB Gene 3-methylglutaconic aciduria type 7
The symptoms of MGCA7 can vary widely, even among people with the same mutation in the CLPB gene. Some common symptoms include:
- Cataracts
- Neurologic involvement, such as developmental delay, intellectual disability, and movement disorders
- Neutropenia
- Low muscle tone
- Weakness and fatigue
- Seizures
- Abnormal liver function
Diagnosis of CLPB Gene 3-methylglutaconic aciduria type 7
MGCA7 is diagnosed through a combination of clinical evaluation, genetic testing, and laboratory tests. A doctor will typically perform a physical examination and take a medical history to look for signs of the disorder. Blood and urine tests can also be used to measure levels of certain amino acids and organic acids that are associated with MGCA7.
Genetic testing is the most reliable way to diagnose MGCA7. This can be done through a variety of tests, including:
- NGS Genetic Test
- Whole-exome sequencing
- Sanger sequencing
NGS Genetic Test is the most advanced and comprehensive genetic testing method that can analyze thousands of genes simultaneously. It can identify all the mutations that cause MGCA7 with high accuracy and reliability. The cost of the NGS Genetic Test for CLPB Gene 3-methylglutaconic aciduria type 7 is INR:20000. This test is typically covered by insurance, but it is important to check with your provider to confirm coverage.
Conclusion
CLPB Gene 3-methylglutaconic aciduria type 7 is a rare genetic disorder that can cause a range of symptoms, including cataracts, neurologic involvement, and neutropenia. Diagnosis of the disorder requires a combination of clinical evaluation, genetic testing, and laboratory tests. The NGS Genetic Test is the most advanced and comprehensive genetic testing method that can identify all the mutations that cause MGCA7 with high accuracy and reliability. If you or a loved one is experiencing symptoms of MGCA7, it is important to talk to a doctor and consider genetic testing to confirm a diagnosis.
| Test Name | CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia 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 CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CLPB Gene 3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia 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.
