ERCC6L2 Gene Bone Marrow Failure Syndrome Type 2 NGS Genetic Test: Symptoms, Diagnosis and Cost
Bone marrow failure syndrome is a rare genetic disorder that affects the production of blood cells in the bone marrow. ERCC6L2 gene bone marrow failure syndrome type 2 is a subtype of this disorder that is caused by mutations in the ERCC6L2 gene.
Symptoms
The symptoms of ERCC6L2 gene bone marrow failure syndrome type 2 include:
- Anemia
- Thrombocytopenia
- Neutropenia
- Pancreatic insufficiency
- Growth retardation
- Developmental delay
- Cognitive impairment
- Hypogonadism
Diagnosis
ERCC6L2 gene bone marrow failure syndrome type 2 can be diagnosed through genetic testing, specifically next-generation sequencing (NGS) Genetic Testing. This type of testing can identify mutations in the ERCC6L2 gene.
Other diagnostic tests that may be performed include:
- Complete blood count (CBC)
- Bone marrow biopsy
- Imaging tests such as X-rays or CT scans
Cost
The cost of the ERCC6L2 gene bone marrow failure syndrome type 2 NGS Genetic Test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and location.
Conclusion
ERCC6L2 gene bone marrow failure syndrome type 2 is a rare genetic disorder that affects the production of blood cells in the bone marrow. Symptoms include anemia, thrombocytopenia, neutropenia, pancreatic insufficiency, growth retardation, developmental delay, cognitive impairment, and hypogonadism. Diagnosis is typically done through next-generation sequencing Genetic Testing, and the cost of the test in India is approximately INR 20,000.
If you suspect that you or a loved one may have ERCC6L2 gene bone marrow failure syndrome type 2, it is important to seek medical attention and undergo appropriate diagnostic testing.
| Test Name | ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Hematologist |
| Pre-test Information | Clinical History of Patient who is going for ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test gene ERCC6L2 |
| Disease | Hematology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6L2 Gene Bone marrow failure syndrome type 2 NGS Genetic Test gene ERCC6L2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ERCC6L2 Gene Bone marrow failure syndrome type 2 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.
