GJB6 Gene Ectodermal Dysplasia, Hidrotic: Symptoms, Diagnosis, and NGS Genetic Test Cost in India
Ectodermal dysplasia, hidrotic (EDH) is a rare genetic disorder that affects the skin, hair, and nails. It is caused by mutations in the GJB6 gene, which is responsible for encoding a protein that forms channels in the skin cells. These channels help in the transport of water and other molecules, which is essential for the normal functioning of the skin.
EDH is also known as Clouston syndrome, after the physician who first described it. The disorder is characterized by thickened, scaly skin on the palms and soles, abnormal hair growth, and nail abnormalities. The severity of the symptoms can vary widely among affected individuals.
Symptoms of GJB6 Gene Ectodermal Dysplasia, Hidrotic
The symptoms of EDH typically appear in infancy or early childhood and may include:
- Thickened, scaly skin on the palms and soles
- Abnormal hair growth
- Nail abnormalities
- Missing or underdeveloped teeth
- Delayed or absent tooth eruption
- Reduced sweating
- Eye abnormalities
Diagnosis of GJB6 Gene Ectodermal Dysplasia, Hidrotic
EDH is diagnosed based on the presence of characteristic symptoms and genetic testing. A skin biopsy may also be performed to confirm the diagnosis. Genetic testing can identify mutations in the GJB6 gene, which is responsible for the disorder. This can be done using Next-Generation Sequencing (NGS) technology.
NGS Genetic Test Cost in India
The cost of NGS Genetic Testing for EDH in India is around INR 20,000. This test is usually performed on a blood sample or a buccal swab.
Conclusion
GJB6 Gene Ectodermal Dysplasia, Hidrotic is a rare genetic disorder that affects the skin, hair, and nails. It is caused by mutations in the GJB6 gene, which is responsible for encoding a protein that forms channels in the skin cells. The disorder is characterized by thickened, scaly skin on the palms and soles, abnormal hair growth, and nail abnormalities. Diagnosis is based on the presence of characteristic symptoms and genetic testing using NGS technology. The cost of NGS Genetic Testing for EDH in India is around INR 20,000.
If you suspect that you or your child may have EDH, it is important to consult a genetic counselor or a healthcare provider who specializes in genetic disorders. They can help guide you through the diagnosis and management of the disorder.
At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic Testing for EDH. Our team of genetic counselors and healthcare professionals can help you understand your test results and provide guidance on the best course of action. Contact us today to learn more.
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 GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test
| Test Name | GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test gene GJB6 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test gene GJB6 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GJB6 Gene Ectodermal dysplasia, hidrotic 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.
