GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test cost INR:20000 symptoms diagnosis
Hyperphenylalaninemia is a genetic disorder that affects the metabolism of the amino acid phenylalanine. It can lead to a buildup of phenylalanine in the body, which can cause damage to the brain and nervous system. There are several types of hyperphenylalaninemia, including GCH1 gene hyperphenylalaninemia, BH4-deficient, and B NGS Genetic Test.
Symptoms of GCH1 Gene Hyperphenylalaninemia
The symptoms of GCH1 gene hyperphenylalaninemia can vary depending on the severity of the condition. Some people may have no symptoms at all, while others may experience developmental delays, seizures, and intellectual disability. Other symptoms may include:
- Abnormal muscle movements
- Difficulty with coordination and balance
- Behavioral problems
- Hyperactivity
- Skin rashes
Diagnosis of GCH1 Gene Hyperphenylalaninemia
GCH1 gene hyperphenylalaninemia is typically diagnosed through a blood test that measures the level of phenylalanine in the blood. Genetic testing may also be used to confirm the diagnosis and identify the specific genetic mutation responsible for the condition.
BH4-deficient Hyperphenylalaninemia
BH4-deficient hyperphenylalaninemia is a type of hyperphenylalaninemia that is caused by a deficiency of tetrahydrobiopterin (BH4), a cofactor required for the metabolism of phenylalanine. Symptoms of BH4-deficient hyperphenylalaninemia can include developmental delays, seizures, and intellectual disability.
B NGS Genetic Test
B NGS Genetic Testing is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the DNA sequence of an individual. This type of testing can be used to identify genetic mutations that are associated with hyperphenylalaninemia, including GCH1 gene hyperphenylalaninemia and BH4-deficient hyperphenylalaninemia.
Cost of B NGS Genetic Test
The cost of B NGS Genetic Testing for hyperphenylalaninemia can vary depending on the provider and location. In India, the cost of the test is typically around INR 20,000.
Conclusion
GCH1 gene hyperphenylalaninemia, BH4-deficient hyperphenylalaninemia, and B NGS Genetic Testing are important topics for individuals and families affected by hyperphenylalaninemia. Early diagnosis and treatment can help prevent or minimize the symptoms of the condition, and genetic testing can provide valuable information for families planning for the future. If you or someone you know is affected by hyperphenylalaninemia, talk to a healthcare provider or genetic counselor to learn more about testing and treatment options.
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 GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test
| Test Name | GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B 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 GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GCH1 Gene Hyperphenylalaninemia, BH4-deficient, B 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.
