PDHA1 Gene Leigh Syndrome – Symptoms, Diagnosis, and NGS Genetic Test Cost
PDHA1 gene Leigh Syndrome is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the PDHA1 gene that encodes for the pyruvate dehydrogenase E1 alpha subunit, an enzyme responsible for the energy production in the mitochondria of the cells. This condition is X-linked, which means it is passed down from the mother to her children.
Symptoms of PDHA1 Gene Leigh Syndrome
The symptoms of PDHA1 gene Leigh Syndrome can vary from person to person and depend on the severity of the condition. Some of the common symptoms include:
- Developmental delays
- Intellectual disability
- Seizures
- Weak muscle tone
- Difficulty in feeding
- Difficulty in breathing
- Cardiac abnormalities
- Visual and hearing impairments
- Encephalopathy
The symptoms usually appear in infancy or early childhood and progress over time. In severe cases, the condition can be fatal.
Diagnosis of PDHA1 Gene Leigh Syndrome
Diagnosis of PDHA1 gene Leigh Syndrome involves a combination of physical examination, medical history, and genetic testing. The doctor may perform a neurological exam to check for muscle weakness, reflexes, and other signs of the condition. Blood and urine tests may also be done to look for metabolic abnormalities.
Genetic testing is the most reliable way to diagnose PDHA1 gene Leigh Syndrome. Next-generation sequencing (NGS) Genetic Testing is a highly accurate and efficient method of identifying mutations in the PDHA1 gene. It involves analyzing the entire DNA sequence of the gene and comparing it to a normal reference sequence. This test can detect even small mutations that may be missed by other methods.
NGS Genetic Test Cost for PDHA1 Gene Leigh Syndrome
The cost of NGS Genetic Testing for PDHA1 gene Leigh Syndrome in India is around INR 20,000. This may vary depending on the testing facility and the specific tests performed. However, this cost is relatively low compared to other countries, making it more accessible to patients in India.
Conclusion
PDHA1 gene Leigh Syndrome is a rare but serious genetic disorder that affects the central nervous system. It can cause developmental delays, intellectual disability, seizures, and other symptoms that can be life-threatening. Early diagnosis and treatment are crucial for managing the condition and improving the quality of life of affected individuals. NGS Genetic Testing is a highly accurate and efficient method of identifying mutations in the PDHA1 gene and can help in the early diagnosis of this condition. The cost of NGS Genetic Testing in India is relatively low, making it more accessible to patients. DNA Labs India provides NGS Genetic Testing for PDHA1 gene Leigh Syndrome and other genetic disorders to help patients get accurate and timely diagnoses.
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 PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test
| Test Name | PDHA1 Gene Leigh syndrome, X-linked 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 PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDHA1 Gene Leigh syndrome, X-linked |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDHA1 Gene Leigh syndrome, X-linked |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PDHA1 Gene Leigh syndrome, X-linked 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.
