PREPL Gene Hypotonia-Cystinuria Syndrome NGS Genetic Test Cost INR 20000: Symptoms and Diagnosis
DNA Labs India offers a comprehensive genetic test for the PREPL gene, which is associated with hypotonia-cystinuria syndrome (HCS). This test can help diagnose HCS and provide insights into the underlying genetic factors contributing to the disorder.
What is Hypotonia-Cystinuria Syndrome?
Hypotonia-cystinuria syndrome (HCS) is a rare genetic disorder that affects the muscles, kidneys, and digestive system. It is caused by mutations in the PREPL gene, which provides instructions for making an enzyme that is involved in the breakdown of certain amino acids.
People with HCS experience weak muscle tone (hypotonia) and difficulty with movement and coordination. They may also have recurrent kidney stones due to the buildup of cystine, an amino acid that is not properly processed by the body. Other symptoms can include feeding difficulties, vomiting, and developmental delays.
Diagnosing HCS
Diagnosing HCS can be challenging because the symptoms are variable and can overlap with other conditions. However, genetic testing can be a valuable tool in confirming a diagnosis and identifying the specific genetic mutations responsible for the disorder.
The genetic test offered by DNA Labs India analyzes the PREPL gene using next-generation sequencing (NGS) technology. This method allows for the simultaneous analysis of multiple genes, which can provide a more comprehensive view of the genetic factors contributing to HCS.
Cost of the PREPL Gene Hypotonia-Cystinuria Syndrome NGS Genetic Test
The cost of the PREPL gene hypotonia-cystinuria syndrome NGS Genetic Test at DNA Labs India is INR 20000. This includes the cost of sample collection, genetic analysis, and a detailed report of the results.
While this may seem like a significant expense, genetic testing can provide valuable information about the underlying causes of a disorder and can help guide treatment decisions. In addition, some insurance plans may cover the cost of genetic testing for certain conditions, so it is worth checking with your provider to see if this test is covered.
Conclusion
Hypotonia-cystinuria syndrome is a rare genetic disorder that can be difficult to diagnose. However, genetic testing can provide valuable insights into the underlying genetic mutations contributing to the disorder. The PREPL gene hypotonia-cystinuria syndrome NGS Genetic Test offered by DNA Labs India is a comprehensive and affordable option for individuals seeking a diagnosis for this condition.
If you or a loved one are experiencing symptoms of HCS, it is important to seek medical attention and consider genetic testing as a tool for diagnosis and treatment.
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 PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test
| Test Name | PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test gene PREPL |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test gene PREPL |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PREPL Gene Hypotonia-cystinuria syndrome 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.
