PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic Test
Leigh Syndrome is a rare and severe neurological disorder that usually affects infants. It is characterized by progressive loss of mental and movement abilities, along with poor muscle tone and seizures. Leigh Syndrome is caused by mutations in several genes, and one of them is the PC gene, which codes for Pyruvate Carboxylase. Pyruvate Carboxylase is an enzyme that plays a crucial role in energy metabolism, and its deficiency leads to the accumulation of toxic substances in the brain and other organs.
The diagnosis of Leigh Syndrome due to PC gene mutation is challenging because the symptoms can be non-specific and overlap with other disorders. However, advances in Next-Generation Sequencing (NGS) technology have made it possible to identify the underlying genetic cause of Leigh Syndrome accurately.
Symptoms of Leigh Syndrome due to PC Gene Mutation
The symptoms of Leigh Syndrome due to PC gene mutation can vary in severity and onset, but they usually appear in infancy or early childhood. These symptoms include:
- Delayed motor development
- Weak muscle tone (hypotonia)
- Seizures
- Difficulty breathing
- Enlarged liver and/or spleen
- Developmental regression
- Unusual eye movements
The symptoms of Leigh Syndrome due to PC gene mutation can worsen rapidly, and affected individuals may not survive beyond their teenage years.
Diagnosis of Leigh Syndrome due to PC Gene Mutation
The diagnosis of Leigh Syndrome due to PC gene mutation can be confirmed through genetic testing. NGS technology allows for the sequencing of multiple genes simultaneously, making it a cost-effective and time-efficient method for identifying the underlying genetic cause of Leigh Syndrome. The test requires a blood or saliva sample from the affected individual and their parents, if available.
The PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic Test is available in India and costs around INR 20,000. The test can provide a definitive diagnosis, which can help in the management and treatment of the disease.
Conclusion
Leigh Syndrome due to PC gene mutation is a severe neurological disorder that can be diagnosed through genetic testing. The PC Gene Leigh Syndrome due to Pyruvate Carboxylase Deficiency NGS Genetic Test is a cost-effective and time-efficient method for identifying the underlying genetic cause of Leigh Syndrome. Early diagnosis can help in the management and treatment of the disease, and genetic counseling can provide valuable information to affected families.
If you suspect that your child may have Leigh Syndrome due to PC gene mutation, consult a genetic counselor or a medical professional who can guide you through the testing process.
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 PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test
| Test Name | PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PC Gene Leigh syndrome due to pyruvate carboxylase deficiency |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PC Gene Leigh syndrome due to pyruvate carboxylase deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PC Gene Leigh syndrome due to pyruvate carboxylase deficiency 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.
