DHCR24 Gene Desmosterolosis NGS Genetic Test Cost INR: 20000 Symptoms Diagnosis
Desmosterolosis is a rare genetic disorder that affects only a few individuals worldwide. It is caused by mutations in the DHCR24 gene, which codes for an enzyme involved in cholesterol synthesis. This disorder is characterized by an accumulation of desmosterol in the body, which leads to a range of symptoms, including developmental delays, intellectual disability, seizures, and dysmorphic features.
The diagnosis of Desmosterolosis can be challenging, and it often requires genetic testing to confirm the underlying cause of the symptoms. DNA Labs India is a leading provider of genetic testing services in India, and we offer an NGS-based Genetic Test for DHCR24 Gene Desmosterolosis.
Symptoms of Desmosterolosis
The symptoms of Desmosterolosis can vary widely, and they may not be apparent at birth. In some cases, symptoms may be mild, while in others, they can be severe and life-threatening. Some common symptoms of Desmosterolosis include:
- Developmental delays
- Intellectual disability
- Seizures
- Dysmorphic features
- Abnormalities in the structure of the brain
- Abnormalities in the structure of the eyes
- Low muscle tone
- Growth delays
- Feeding difficulties
Diagnosis of Desmosterolosis
Diagnosing Desmosterolosis can be challenging, and it often requires genetic testing to confirm the underlying cause of the symptoms. The DHCR24 Gene Desmosterolosis NGS Genetic Test offered by DNA Labs India is a comprehensive test that can identify mutations in the DHCR24 gene. This test involves the analysis of a patient’s DNA sample to detect any changes or mutations in the DHCR24 gene that may be responsible for the symptoms of Desmosterolosis.
The DHCR24 Gene Desmosterolosis NGS Genetic Test is a highly accurate and reliable test that can provide a definitive diagnosis of Desmosterolosis. This test is performed using advanced next-generation sequencing (NGS) technology, which allows for the analysis of multiple genes simultaneously.
Cost of DHCR24 Gene Desmosterolosis NGS Genetic Test
The cost of the DHCR24 Gene Desmosterolosis NGS Genetic Test offered by DNA Labs India is INR 20,000. This cost includes the analysis of the patient’s DNA sample, the interpretation of the test results, and genetic counseling services.
Conclusion
If you or your child is experiencing symptoms of Desmosterolosis, it is essential to seek medical attention and undergo genetic testing to determine the underlying cause of the symptoms. The DHCR24 Gene Desmosterolosis NGS Genetic Test offered by DNA Labs India is a comprehensive and reliable test that can provide a definitive diagnosis of Desmosterolosis. Contact DNA Labs India today to learn more about this test and to schedule an appointment.
Test Name | DHCR24 Gene Desmosterolosis NGS Genetic Test |
---|---|
Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
Test type | Pediatrics |
Pre-test Information | Clinical History of Patient who is going for DHCR24 Gene Desmosterolosis NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR24 Gene Desmosterolosis NGS Genetic Test gene DHCR24 |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for DHCR24 Gene Desmosterolosis NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR24 Gene Desmosterolosis NGS Genetic Test gene DHCR24 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for DHCR24 Gene Desmosterolosis 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.