RARS2 Gene and Pontocerebellar Hypoplasia Type 6: Symptoms, Diagnosis, and NGS Genetic Test Cost by DNA Labs India
Pontocerebellar hypoplasia type 6 (PCH6) is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the RARS2 gene, which provides instructions for making an enzyme called mitochondrial arginyl-tRNA synthetase.
This enzyme is essential for the production of proteins within mitochondria, the energy-producing structures in cells. Mutations in the RARS2 gene disrupt the function of this enzyme, leading to a shortage of functional mitochondria in brain cells. This shortage causes the brain to develop abnormally, leading to the symptoms of PCH6.
Symptoms of Pontocerebellar Hypoplasia Type 6
The symptoms of PCH6 can vary widely depending on the severity of the condition. Some individuals may have mild symptoms, while others may be severely affected. The most common symptoms of PCH6 include:
- Delayed development of motor skills
- Weak muscle tone (hypotonia)
- Difficulty with coordination and balance (ataxia)
- Intellectual disability
- Seizures
- Difficulty with swallowing and breathing
- Visual impairment
The symptoms of PCH6 usually appear in infancy or early childhood and worsen over time.
Diagnosis of Pontocerebellar Hypoplasia Type 6
PCH6 is diagnosed based on a combination of clinical features, brain imaging studies, and genetic testing. Brain imaging studies such as magnetic resonance imaging (MRI) can reveal abnormalities in the structure of the brain that are characteristic of PCH6.
Genetic testing can confirm the diagnosis by identifying mutations in the RARS2 gene. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic Test for PCH6 that can detect mutations in the RARS2 gene with high accuracy.
NGS Genetic Test Cost in India
The cost of the NGS Genetic Test for PCH6 at DNA Labs India is INR 20,000. This test uses advanced sequencing technology to analyze the entire RARS2 gene and identify any mutations that may be present.
NGS Genetic Testing offers several advantages over traditional genetic testing methods. It is faster, more accurate, and can detect a wider range of genetic mutations. This makes it an ideal choice for diagnosing rare genetic disorders like PCH6.
Conclusion
Pontocerebellar hypoplasia type 6 is a rare genetic disorder that affects the development of the brain. It is caused by mutations in the RARS2 gene, which can be detected using NGS Genetic Testing. DNA Labs India offers this test at a cost of INR 20,000. Early diagnosis of PCH6 can help families access the appropriate medical care and support needed to manage this condition effectively.
If you suspect that you or a loved one may have PCH6, contact DNA Labs India to learn more about NGS Genetic Testing and how it can help you get the answers you need.
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 RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test
| Test Name | RARS2 Gene Pontocerebellar hypoplasia type 6 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 RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RARS2 Gene Pontocerebellar hypoplasia type 6 |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with RARS2 Gene Pontocerebellar hypoplasia type 6 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for RARS2 Gene Pontocerebellar hypoplasia type 6 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.
