Understanding CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency: Symptoms, Diagnosis, and Genetic Test Cost

CPT2 gene carnitine palmitoyltransferase 2 deficiency is a rare genetic disorder that affects the body’s ability to metabolize fats for energy. It is caused by mutations in the CPT2 gene, which provides instructions for making an enzyme that is involved in the breakdown of long-chain fatty acids. This deficiency can result in a range of symptoms, from mild to severe, and can be fatal in some cases.

Symptoms of CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency

Symptoms of CPT2 gene carnitine palmitoyltransferase 2 deficiency can vary widely depending on the severity of the condition. Some people may have no symptoms at all, while others may experience:

• Muscle weakness
• Low blood sugar
• Enlarged liver
• Heart problems
• Seizures
• Coma
• Death

Diagnosis of CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency

Diagnosis of CPT2 gene carnitine palmitoyltransferase 2 deficiency typically involves a combination of physical exams, medical history, and genetic testing. Blood tests can be used to measure levels of certain enzymes and assess liver and muscle function. Genetic testing can identify mutations in the CPT2 gene and confirm a diagnosis of the disorder.

Genetic Test Cost for CPT2 Gene Carnitine Palmitoyltransferase 2 Deficiency

The cost of Genetic Testing for CPT2 gene carnitine palmitoyltransferase 2 deficiency can vary depending on the laboratory conducting the test. At DNA Labs India, the cost of testing for this disorder is INR 20,000. This type of testing involves using next-generation sequencing (NGS) technology to analyze the patient’s DNA and identify any mutations in the CPT2 gene.

Conclusion

CPT2 gene carnitine palmitoyltransferase 2 deficiency is a rare genetic disorder that can be fatal in some cases. Understanding the symptoms and diagnosis of this condition is important for early detection and treatment. Genetic Testing can help identify mutations in the CPT2 gene and confirm a diagnosis of the disorder. At DNA Labs India, we offer NGS Genetic Testing for CPT2 gene carnitine palmitoyltransferase 2 deficiency at a cost of INR 20,000.

Mutations in the CPT2 gene can lead to a severe and life-threatening form of carnitine palmitoyltransferase 2 deficiency (CPT2 deficiency), known as lethal neonatal CPT2 deficiency. CPT2 is an enzyme that plays a critical role in the transport of long-chain fatty acids into the mitochondria for energy production. Defects in this enzyme can result in the inability to effectively metabolize fatty acids for energy, leading to a range of severe symptoms.

 Note: We offer free home sample collection for online bookings for CPT2 Gene Carnitine palmitoyltransferase 2 deficiency, lethal neonatal 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.