EXOSC3 Gene Pontocerebellar Hypoplasia Type 1B NGS Genetic Test
Pontocerebellar hypoplasia type 1B is a rare genetic disorder that affects the development of the brain. This disorder is caused by mutations in the EXOSC3 gene. The EXOSC3 gene provides instructions for making a protein that is part of a complex called the exosome. The exosome is involved in the processing of RNA, which is a molecule that carries genetic information.
Symptoms of Pontocerebellar Hypoplasia Type 1B
The symptoms of pontocerebellar hypoplasia type 1B vary from person to person and can range from mild to severe. Some of the common symptoms include:
- Delayed development
- Weak muscle tone
- Difficulty with coordination and balance
- Seizures
- Intellectual disability
Diagnosis of Pontocerebellar Hypoplasia Type 1B
The diagnosis of pontocerebellar hypoplasia type 1B is made through genetic testing. A sample of DNA is taken from the patient and analyzed for mutations in the EXOSC3 gene. This can be done through a variety of methods, including:
- Next-generation sequencing (NGS)
- Sanger sequencing
- PCR analysis
NGS Genetic Test
Next-generation sequencing (NGS) is a powerful tool that allows for the analysis of multiple genes at once. This technology can be used to analyze the EXOSC3 gene and identify mutations that may be causing pontocerebellar hypoplasia type 1B. NGS is a highly accurate and efficient method of genetic testing that can provide a diagnosis in a timely manner.
Cost of NGS Genetic Test
The cost of the NGS Genetic Test for pontocerebellar hypoplasia type 1B varies depending on the laboratory and location. In India, the cost of this test is typically around INR 20,000. However, this cost may vary depending on the specific laboratory and any additional testing that may be required.
Conclusion
Pontocerebellar hypoplasia type 1B is a rare genetic disorder that can have a significant impact on a person’s life. Genetic testing, such as NGS, can provide a diagnosis and help to guide treatment options. The cost of this testing may vary, but it is an important investment in the health and well-being of those affected by this disorder.
Pontocerebellar Hypoplasia (PCH) Type 1B is a rare genetic disorder that primarily affects the brain’s development, particularly the pons and cerebellum. It is caused by mutations in the EXOSC3 gene.
The EXOSC3 gene encodes a component of the exosome complex, which is involved in RNA processing and degradation. Mutations in this gene can lead to abnormal RNA processing and potentially disrupt normal cellular functions critical for brain development.
A Next-Generation Sequencing (NGS) Genetic Test for the EXOSC3 gene would involve sequencing the DNA of an individual to identify any variations or mutations within the gene that could be linked to Pontocerebellar Hypoplasia Type 1B. This type of test can aid in confirming a diagnosis, providing information for medical management, and assisting with genetic counseling.
If you suspect that someone might have Pontocerebellar Hypoplasia Type 1B or if there’s a family history of the condition, it’s important to consult with a medical geneticist or a healthcare professional with expertise in genetics. They can guide you through the process of genetic testing, provide appropriate counseling, and help interpret the test results. Genetic testing can offer valuable insights into the genetic basis of the condition and assist in making informed medical decisions.
| Test Name | EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Test type | Neurologist |
| Pre-test Information | Clinical History of Patient who is going for EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with EXOSC3 Gene Pontocerebellar hypoplasia type 1B |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with EXOSC3 Gene Pontocerebellar hypoplasia type 1B |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for EXOSC3 Gene Pontocerebellar hypoplasia type 1B 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.
