HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
3-beta-hydroxysteroid dehydrogenase deficiency type 2 is a rare genetic disorder that affects the adrenal glands. This condition is caused by mutations in the HSD3B2 gene. The HSD3B2 gene provides instructions for making an enzyme called 3-beta-hydroxysteroid dehydrogenase, which is involved in the production of certain hormones. Mutations in this gene lead to a decrease in the activity of the enzyme, resulting in a deficiency of certain hormones.
Symptoms of HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2
The symptoms of 3-beta-hydroxysteroid dehydrogenase deficiency type 2 vary depending on the severity of the deficiency. Some individuals may not experience any symptoms, while others may have severe symptoms. The most common symptoms of this condition include:
- Delayed growth and development
- Early onset of puberty in males
- Irregular menstrual periods or absent periods in females
- Excessive hair growth in females
- Acne
Diagnosis of HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2
The diagnosis of 3-beta-hydroxysteroid dehydrogenase deficiency type 2 is typically made through genetic testing. A NGS Genetic Test can identify mutations in the HSD3B2 gene. It is important to note that not all individuals with mutations in this gene will develop symptoms of the condition.
Cost of HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
The cost of the HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test is INR 20,000. This test is not typically covered by insurance, so it is important to check with your insurance provider before undergoing testing.
Conclusion
3-beta-hydroxysteroid dehydrogenase deficiency type 2 is a rare genetic disorder that affects the adrenal glands. It is caused by mutations in the HSD3B2 gene, which leads to a deficiency of certain hormones. Symptoms of this condition vary depending on the severity of the deficiency. Genetic testing, such as the HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test, can identify mutations in the HSD3B2 gene. If you suspect you or a loved one may have this condition, it is important to speak with a healthcare provider.
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 HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test
Test Name | HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 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 HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-beta-hydroxysteroid dehydrogenase deficiency type 2 |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-beta-hydroxysteroid dehydrogenase deficiency type 2 |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for HSD3B2 Gene 3-beta-hydroxysteroid dehydrogenase deficiency type 2 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.