ERCC3 Gene Trichothiodystrophy NGS Genetic Test
Trichothiodystrophy is a rare genetic disorder that affects the development and growth of hair, skin, and nails. The disorder is caused by mutations in the ERCC3 gene, which encodes a protein that plays a critical role in DNA repair. Individuals with Trichothiodystrophy have brittle, dry hair that breaks easily, and may also have intellectual disability, short stature, and other developmental abnormalities.
ERCC3 Gene Trichothiodystrophy NGS Genetic Test is a diagnostic test that detects mutations in the ERCC3 gene. The test is performed using next-generation sequencing (NGS) technology, which allows for the simultaneous detection of multiple genetic mutations in a single sample.
Symptoms of Trichothiodystrophy
The symptoms of Trichothiodystrophy vary widely depending on the severity of the mutation. Some individuals may have only mild hair abnormalities, while others may have severe developmental delays and intellectual disability. Some common symptoms of Trichothiodystrophy include:
- Brittle, dry hair that breaks easily
- Slow growth of hair, skin, and nails
- Sensitivity to sunlight
- Intellectual disability
- Short stature
- Abnormal facial features
- Developmental abnormalities
Diagnosis of Trichothiodystrophy
Trichothiodystrophy is diagnosed based on the symptoms, physical examination, and genetic testing. ERCC3 Gene Trichothiodystrophy NGS Genetic Test is a reliable diagnostic tool that helps in identifying mutations in the ERCC3 gene. The test is performed on a blood or saliva sample, and the results are usually available within a few weeks.
Cost of ERCC3 Gene Trichothiodystrophy NGS Genetic Test
The cost of ERCC3 Gene Trichothiodystrophy NGS Genetic Test in India is around INR 20,000. The cost may vary depending on the location and the laboratory where the test is performed.
Conclusion
ERCC3 Gene Trichothiodystrophy NGS Genetic Test is a reliable diagnostic tool that helps in identifying mutations in the ERCC3 gene. The test is useful in diagnosing Trichothiodystrophy, a rare genetic disorder that affects the development and growth of hair, skin, and nails. The cost of the test is around INR 20,000 in India, and the results are usually available within a few weeks. If you suspect that you or your child may have Trichothiodystrophy, it is essential to consult a genetic counselor or a healthcare professional for accurate diagnosis and appropriate treatment.
| Test Name | ERCC3 Gene Trichothiodystrophy 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 ERCC3 Gene Trichothiodystrophy NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC3 Gene Trichothiodystrophy NGS Genetic Test gene ERCC3 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ERCC3 Gene Trichothiodystrophy NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC3 Gene Trichothiodystrophy NGS Genetic Test gene ERCC3 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ERCC3 Gene Trichothiodystrophy 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.
