TUBGCP6 Gene Microcephaly and Chorioretinopathy with or without Mental Retardation NGS Genetic Test
Microcephaly is a rare neurological condition in which an infant’s head size is significantly smaller than the average for their age and sex. Chorioretinopathy is a condition that affects the retina and choroid, causing vision impairment. Mental retardation refers to a condition in which a person has below-average intellectual functioning and adaptive behavior.
Recent research has identified a genetic mutation in the TUBGCP6 gene that has been linked to microcephaly and chorioretinopathy with or without mental retardation. The TUBGCP6 gene provides instructions for making a protein that is essential for the proper division of cells during development.
If you suspect that you or a loved one may have this genetic mutation, DNA Labs India offers a NGS Genetic Test to diagnose the condition. The cost of the test is INR 20,000.
Symptoms
The symptoms of microcephaly and chorioretinopathy with or without mental retardation can vary greatly depending on the severity of the condition. Some common symptoms include:
- Small head size
- Delayed growth and development
- Vision impairment
- Intellectual disability
- Seizures
If you or a loved one are experiencing any of these symptoms, it is important to consult with a medical professional.
Diagnosis
The diagnosis of microcephaly and chorioretinopathy with or without mental retardation can be made through a genetic test such as the NGS Genetic Test offered by DNA Labs India. This test analyzes the DNA to identify the TUBGCP6 gene mutation.
If a diagnosis is made, your doctor may recommend additional tests to determine the severity of the condition and to develop a treatment plan.
Conclusion
The TUBGCP6 gene mutation is a rare genetic condition that can lead to microcephaly and chorioretinopathy with or without mental retardation. If you or a loved one are experiencing symptoms, it is important to consult with a medical professional and consider genetic testing.
DNA Labs India offers a NGS Genetic Test to diagnose this condition with a cost of INR 20,000. Early diagnosis and intervention can help manage symptoms and improve quality of life.
For more information on the NGS Genetic Test or to schedule a test, please contact DNA Labs India.
| Test Name | TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Pediatrics |
| Pre-test Information | Clinical History of Patient who is going for TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test gene TUBGCP6 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test gene TUBGCP6 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation 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.
