SEPSECS Gene and Pontocerebellar Hypoplasia Type 2D: Symptoms, Diagnosis, and NGS Genetic Test Cost in India
DNA Labs India is a leading provider of genetic testing services in India. One of the tests we offer is the Next Generation Sequencing (NGS) Genetic Test, which can help diagnose a range of genetic conditions, including Pontocerebellar Hypoplasia Type 2D (PCH2D). PCH2D is a rare genetic disorder that affects the development of the brain and nervous system. In this blog, we will discuss the symptoms, diagnosis, and cost of the NGS Genetic Test for PCH2D.
Symptoms of PCH2D
The symptoms of PCH2D can vary widely from person to person, but typically include:
- Low muscle tone (hypotonia)
- Difficulty with movement and coordination (ataxia)
- Intellectual disability
- Delayed development of motor skills
- Seizures
These symptoms can be present at birth or may develop over time. In some cases, individuals with PCH2D may also have vision or hearing problems, breathing difficulties, or problems with feeding and digestion.
Diagnosis of PCH2D
The diagnosis of PCH2D is typically made through a combination of clinical evaluation, imaging studies, and genetic testing. A neurologist or other specialist will evaluate the patient’s symptoms, medical history, and family history to determine if PCH2D is a likely diagnosis. Imaging studies, such as MRI or CT scans, may be used to look for abnormalities in the brain and nervous system.
Genetic testing is the most definitive way to diagnose PCH2D. Specifically, testing for mutations in the SEPSECS gene can confirm a diagnosis of PCH2D. This can be done through a variety of genetic testing methods, including NGS Genetic Testing.
NGS Genetic Test for PCH2D
The NGS Genetic Test is a powerful tool for diagnosing PCH2D and other genetic conditions. This test uses advanced sequencing technology to analyze an individual’s DNA and identify any mutations or variations that may be associated with PCH2D. The test can be performed on a blood or saliva sample, and results are typically available within a few weeks.
The cost of the NGS Genetic Test for PCH2D at DNA Labs India is INR 20,000. This cost includes the sample collection kit, laboratory testing, and a detailed report of the results.
Conclusion
Pontocerebellar Hypoplasia Type 2D is a rare genetic condition that can cause a range of symptoms affecting the brain and nervous system. Diagnosis typically involves a combination of clinical evaluation, imaging studies, and genetic testing. The NGS Genetic Test is a powerful tool for diagnosing PCH2D and other genetic conditions, and is available at DNA Labs India for INR 20,000. If you or a loved one is experiencing symptoms of PCH2D, we encourage you to speak with a healthcare provider about the possibility of genetic testing.
For more information about DNA Labs India and our genetic testing services, please visit our website.
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 SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test
| Test Name | SEPSECS Gene Pontocerebellar hypoplasia type 2D 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 SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SEPSECS Gene Pontocerebellar hypoplasia type 2D |
| Disease | Neurological Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with SEPSECS Gene Pontocerebellar hypoplasia type 2D |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for SEPSECS Gene Pontocerebellar hypoplasia type 2D 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.
