PC Gene Pyruvate carboxylase deficiency NGS Genetic Test cost INR:20000 symptoms diagnosis
Pyruvate carboxylase deficiency is a rare genetic disorder that affects the body’s ability to produce energy from food. The condition is caused by mutations in the PC gene, which provides instructions for making an enzyme called pyruvate carboxylase. This enzyme is essential for several metabolic pathways, including gluconeogenesis, lipogenesis, and neurotransmitter synthesis.
Symptoms of Pyruvate carboxylase deficiency
The symptoms of pyruvate carboxylase deficiency can vary widely depending on the severity of the condition and the age of onset. In many cases, symptoms become apparent in infancy or early childhood and may include:
- Developmental delay
- Low muscle tone (hypotonia)
- Poor feeding and failure to thrive
- Seizures
- Abnormal movements
- Intellectual disability
Diagnosis of Pyruvate carboxylase deficiency
Diagnosis of pyruvate carboxylase deficiency typically involves a combination of clinical evaluation, laboratory testing, and genetic testing. Laboratory tests may include blood tests to measure levels of pyruvate and lactate, as well as imaging studies such as MRI or CT scans. Genetic testing can confirm the diagnosis and identify the specific PC gene mutation responsible for the condition.
NGS Genetic Test for Pyruvate carboxylase deficiency
NGS (Next-Generation Sequencing) Genetic Testing is a powerful tool for identifying genetic mutations associated with pyruvate carboxylase deficiency. This type of testing can analyze multiple genes simultaneously, allowing for a more comprehensive evaluation of a patient’s genetic profile. The cost of NGS Genetic Testing for pyruvate carboxylase deficiency in India is typically around INR 20,000.
Conclusion
Pyruvate carboxylase deficiency is a rare genetic disorder that can have a significant impact on a patient’s health and quality of life. Early diagnosis and treatment are essential for managing the symptoms of the condition and preventing complications. NGS Genetic Testing can provide valuable information about a patient’s genetic profile and help healthcare providers make informed treatment decisions. If you or a loved one are experiencing symptoms of pyruvate carboxylase deficiency, talk to your healthcare provider about the possibility of genetic testing.
For more information about NGS Genetic Testing for pyruvate carboxylase deficiency, contact DNA Labs India today.
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 Pyruvate carboxylase deficiency NGS Genetic Test
| Test Name | PC Gene 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 Pyruvate carboxylase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PC Gene 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 Pyruvate carboxylase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PC Gene 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 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.
