GJB3 Gene Erythrokeratodermia Variabilis et Progressive NGS Genetic Test Cost INR: 20,000 Symptoms Diagnosis
Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder that affects the skin’s ability to regenerate. The condition is caused by mutations in the GJB3 gene, which encodes for the protein connexin 31. Connexin 31 is found in the skin’s epidermis and is responsible for the formation of gap junctions between cells. These gap junctions allow for communication between cells and play a crucial role in maintaining the skin’s barrier function.
Symptoms of Erythrokeratodermia Variabilis et Progressive
The symptoms of EKVP can vary greatly between individuals, even within the same family. The condition typically presents with red, scaly patches on the skin that can be itchy and painful. These patches may appear on any part of the body, but are most commonly found on the face, scalp, and trunk. The patches may come and go, and can change in size and shape over time. In some cases, the patches may be accompanied by thickening of the skin (hyperkeratosis) and blistering.
Diagnosis of Erythrokeratodermia Variabilis et Progressive
Diagnosis of EKVP can be challenging, as the symptoms can be similar to other skin conditions. A skin biopsy may be performed to confirm the diagnosis, which will show hyperkeratosis and a thickening of the skin’s stratum corneum. Genetic testing can also be used to confirm a diagnosis of EKVP by identifying mutations in the GJB3 gene.
NGS Genetic Test for GJB3 Gene
Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations in the GJB3 gene. This test can detect both known and novel mutations, making it a valuable tool for diagnosing EKVP. The test is non-invasive and involves taking a small sample of blood or saliva. The cost of the NGS Genetic Test for the GJB3 gene is INR 20,000.
Conclusion
Erythrokeratodermia variabilis et progressive is a rare genetic skin disorder that can be challenging to diagnose. Genetic testing can help confirm a diagnosis of EKVP by identifying mutations in the GJB3 gene. The NGS Genetic Test for the GJB3 gene is a non-invasive and effective tool for diagnosing EKVP, and has a cost of INR 20,000.
If you suspect that you or a loved one may have EKVP, it is important to seek medical advice from a dermatologist or genetic counselor. Early diagnosis and management can help prevent complications and improve outcomes for individuals with this condition.
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 GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
| Test Name | GJB3 Gene Erythrokeratodermia variabilis et progressive 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 GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test gene GJB3 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test gene GJB3 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for GJB3 Gene Erythrokeratodermia variabilis et progressive 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.
