PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
PHOX2B gene central hypoventilation syndrome (CCHS) with or without Hirschsprung disease is a rare genetic disorder that affects the autonomic nervous system. It is a life-threatening condition that causes breathing difficulties and can lead to sudden death if not diagnosed and managed properly. DNA Labs India offers NGS Genetic Testing for this disorder at a cost of INR 20000. Let’s take a closer look at the symptoms, diagnosis, and treatment options for PHOX2B gene CCHS with or without Hirschsprung disease.
Symptoms of PHOX2B Gene CCHS with or without Hirschsprung Disease
The symptoms of PHOX2B gene CCHS with or without Hirschsprung disease vary widely depending on the severity of the condition. Some common symptoms include:
- Difficulty breathing
- Apnea (temporary cessation of breathing)
- Low blood oxygen levels
- Difficulty regulating body temperature
- Constipation or bowel obstruction
- Difficulty feeding
- Poor growth
- Intellectual disability
These symptoms can occur at any age, from infancy to adulthood. They can also vary in severity, with some individuals experiencing mild symptoms while others experience life-threatening complications.
Diagnosis of PHOX2B Gene CCHS with or without Hirschsprung Disease
Diagnosing PHOX2B gene CCHS with or without Hirschsprung disease can be challenging because the symptoms can be similar to other respiratory or gastrointestinal disorders. A genetic test is required to confirm the diagnosis. DNA Labs India offers NGS Genetic Testing for this disorder at a cost of INR 20000. The test involves analyzing the patient’s DNA to identify any mutations or abnormalities in the PHOX2B gene. A positive result confirms the diagnosis of PHOX2B gene CCHS with or without Hirschsprung disease.
Treatment of PHOX2B Gene CCHS with or without Hirschsprung Disease
There is no cure for PHOX2B gene CCHS with or without Hirschsprung disease. Treatment is focused on managing the symptoms and preventing complications. This may involve:
- Artificial ventilation to support breathing
- Medications to regulate breathing and heart rate
- Surgery to remove the affected portion of the colon in cases of Hirschsprung disease
- Feeding tubes to ensure adequate nutrition
Early diagnosis and prompt treatment are critical for managing PHOX2B gene CCHS with or without Hirschsprung disease and improving outcomes.
Conclusion
PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease is a rare genetic disorder that affects breathing and can be life-threatening. DNA Labs India offers NGS Genetic Testing for this disorder at a cost of INR 20000. If you or a loved one are experiencing symptoms of PHOX2B gene CCHS with or without Hirschsprung disease, it is important to seek medical attention promptly. With early diagnosis and proper management, individuals with this disorder can lead healthy and fulfilling lives.
For more information on PHOX2B gene CCHS with or without Hirschsprung disease and NGS Genetic Testing, contact DNA Labs India today.
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 PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test
| Test Name | PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease 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 PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease 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.
