PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test
PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is a rare genetic disorder that affects the brain and limbs of an individual. This condition is caused by mutations in the PIK3R2 gene. The PIK3R2 gene provides instructions for making a protein that is involved in the development and function of the brain. Mutations in this gene disrupt normal brain development, resulting in an abnormal growth of the brain (megalencephaly) and the formation of small, abnormal folds in the brain’s surface (polymicrogyria).
Other features of MPPH syndrome include extra fingers or toes (polydactyly) and an accumulation of cerebrospinal fluid in the brain (hydrocephalus). The severity of these symptoms can vary widely, even among individuals with the same genetic mutation.
Symptoms of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
The symptoms of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome vary widely, but may include:
- Abnormal head size or shape
- Small head circumference
- Developmental delays
- Intellectual disability
- Seizures
- Extra fingers or toes
- Hydrocephalus
- Abnormalities in the structure of the brain
Diagnosis of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is diagnosed through genetic testing. Next-generation sequencing (NGS) is a DNA test that can detect mutations in the PIK3R2 gene. This test involves sequencing the entire gene to identify any changes in the DNA sequence that may be causing the disorder. NGS is a highly accurate and reliable method for detecting genetic mutations.
Cost of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test
The cost of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test in India is INR 20,000. This cost includes the DNA test and the interpretation of the results by a genetic counselor or physician.
Conclusion
PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic disorder that affects the brain and limbs. Genetic testing, such as NGS, is a highly accurate and reliable method for detecting mutations in the PIK3R2 gene. The cost of the test in India is INR 20,000, which includes the DNA test and the interpretation of the results by a genetic counselor or physician. Early diagnosis of this disorder can help individuals and their families to better manage the symptoms and plan for the future.
If you or a loved one is experiencing symptoms of PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, consult with a genetic counselor or physician to discuss genetic testing options and treatment options.
At DNA Labs India, we offer a range of genetic testing services, including NGS, to help individuals and families better understand their genetic makeup and manage genetic disorders. Contact us today to learn more about our services.
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 PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test
| Test Name | PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 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 PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test gene PIK3R2 |
| Disease | Dysmorphology |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test gene PIK3R2 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 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.
