FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test
Blepharophimosis, epicanthus inversus, and ptosis are three distinct conditions that can affect the eyes. These conditions are caused by mutations in the FOXL2 gene. The FOXL2 gene provides instructions for making a protein that is important for the development of the eyes and other organs. Mutations in this gene can lead to abnormalities in the structure and function of the eyes.
Symptoms of FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis
Blepharophimosis is a condition in which the distance between the inner corners of the eyelids is shorter than normal. Epicanthus inversus is a condition in which the skin fold between the upper eyelid and the nose is turned inwards. Ptosis is a condition in which the upper eyelid droops down, partially or completely covering the eye. These three conditions can occur together or separately, and can affect one or both eyes. In addition to these eye abnormalities, individuals with mutations in the FOXL2 gene may also have other physical abnormalities, such as a small head size, a shortened distance between the nose and upper lip, and low-set ears.
Diagnosis of FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis
A diagnosis of FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis can be made based on the presence of the characteristic eye and physical abnormalities. Genetic testing can confirm the presence of a mutation in the FOXL2 gene, and can be used to determine if other family members are at risk of inheriting the condition. Genetic counseling may be recommended for individuals and families affected by FOXL2 gene mutations.
NGS Genetic Test Cost
The cost of NGS Genetic Testing for FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis in India is approximately INR 20,000. This cost may vary depending on the specific testing laboratory and the extent of testing required.
Conclusion
FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis are rare genetic conditions that can cause abnormalities in the structure and function of the eyes. Genetic testing can confirm the presence of a mutation in the FOXL2 gene and can be used to provide a diagnosis for affected individuals and families. NGS Genetic Testing for FOXL2 gene mutations is available in India at a cost of approximately INR 20,000.
If you suspect that you or a family member may be affected by FOXL2 gene blepharophimosis, epicanthus inversus, and ptosis, it is important to speak with a healthcare professional or genetic counselor for further evaluation and testing.
For more information or to book a test, please contact DNA Labs India.
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 FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic Test
| Test Name | FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Ophthalmologist |
| Pre-test Information | Clinical History of Patient who is going for FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic Test gene FOXL2 |
| Disease | Ophthalmology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FOXL2 Gene Blepharophimosis, epicanthus inversus, and ptosis NGS Genetic Test gene FOXL2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for FOXL2 Gene Blepharophimosis, Epicanthus Inversus, and Ptosis 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.
