CYP21A2 Gene: Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency NGS Genetic Test
CYP21A2 gene is responsible for encoding the 21-hydroxylase enzyme, which is crucial in the production of cortisol and aldosterone hormones in the adrenal gland. Adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive genetic disorder that affects the adrenal gland’s ability to produce these hormones. This deficiency causes the accumulation of precursors to these hormones, which leads to the production of androgens, causing masculinization of external genitalia in females and early puberty in both sexes.
NGS Genetic Test is a diagnostic test that analyzes the CYP21A2 gene’s sequence to detect any mutations or abnormalities that may cause adrenal hyperplasia due to 21-hydroxylase deficiency. This test is essential in identifying the cause of the disorder and the appropriate treatment plan.
Symptoms of Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
The symptoms of adrenal hyperplasia due to 21-hydroxylase deficiency may vary depending on the severity of the disorder. The common symptoms include:
- Abnormal genitalia development in females
- Early puberty in both sexes
- Excessive body hair growth
- Acne
- Irregular menstrual periods in females
- Infertility in females
- Decreased fertility in males
- Low blood pressure
- Dehydration
- Electrolyte imbalances
- Salt cravings
Diagnosis of Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
The diagnosis of adrenal hyperplasia due to 21-hydroxylase deficiency may involve several tests, including:
- Physical examination to check for abnormal genitalia development in females and early puberty in both sexes
- Blood tests to measure the levels of cortisol, aldosterone, and androgens
- ACTH stimulation test to measure the adrenal gland’s response to the adrenocorticotropic hormone (ACTH)
- Genetic testing to identify any mutations or abnormalities in the CYP21A2 gene
NGS Genetic Test Cost
The cost of the NGS Genetic Test for adrenal hyperplasia due to 21-hydroxylase deficiency may vary depending on the laboratory and the location. In India, the cost of this test may range from INR 15,000 to INR 25,000.
Conclusion
Adrenal hyperplasia due to 21-hydroxylase deficiency is a genetic disorder that affects the adrenal gland’s ability to produce cortisol and aldosterone hormones. The NGS Genetic Test is a diagnostic tool that can identify any mutations or abnormalities in the CYP21A2 gene, which is responsible for encoding the 21-hydroxylase enzyme. Early diagnosis and appropriate treatment plan can help manage the symptoms of this disorder.
If you suspect that you or your child may have adrenal hyperplasia due to 21-hydroxylase deficiency, consult a doctor immediately and ask about the NGS Genetic Test.
| Test Name | CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency 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 CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adrenal hyperplasia due to 21-hydroxylase deficiency |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Adrenal hyperplasia due to 21-hydroxylase deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for CYP21A2 Gene Adrenal hyperplasia due to 21-hydroxylase deficiency 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.
