GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic Test Cost INR:20000 Symptoms Diagnosis

Rhizomelic chondrodysplasia punctata type 2 (RCDP2) is a rare genetic disorder that affects skeletal development and causes intellectual disability. This disorder is caused by mutations in the GNPAT gene. DNA Labs India offers NGS Genetic Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 at a cost of INR 20000. In this blog, we will discuss the symptoms and diagnosis of this disorder.

Symptoms of Rhizomelic Chondrodysplasia Punctata Type 2

The symptoms of RCDP2 can vary widely, but usually appear within the first year of life. Some common symptoms include:

• Abnormal facial features, such as a small head, widely spaced eyes, and a flat nasal bridge
• Delayed growth and development, including delayed motor skills and intellectual disability
• Skeletal abnormalities, such as shortening of the long bones in the arms and legs, and abnormal curvature of the spine
• Epilepsy
• Vision problems, including cataracts and clouding of the cornea
• Poor muscle tone

Diagnosis of Rhizomelic Chondrodysplasia Punctata Type 2

Diagnosis of RCDP2 is usually made through genetic testing. DNA Labs India offers NGS Genetic Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 at a cost of INR 20000. This test uses next-generation sequencing to identify mutations in the GNPAT gene that are associated with RCDP2.

In addition to genetic testing, doctors may perform a physical exam to look for characteristic signs of RCDP2, such as abnormal facial features and skeletal abnormalities. Imaging tests, such as X-rays and MRI scans, may also be used to look for skeletal abnormalities.

Conclusion

Rhizomelic chondrodysplasia punctata type 2 is a rare genetic disorder that can cause a wide range of symptoms, including delayed growth and development, skeletal abnormalities, and intellectual disability. DNA Labs India offers NGS Genetic Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 at a cost of INR 20000, which can help diagnose this disorder. If you suspect that you or a loved one may have RCDP2, it is important to talk to a doctor and consider genetic testing.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services. If you have any questions about our NGS Genetic Test for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2, or any of our other genetic testing services, please don’t hesitate to contact us.

 Note: We offer free home sample collection for online bookings for GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 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.