PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test: Symptoms, Diagnosis and Cost

Arthrogryposis is a rare genetic disorder that affects joint flexibility and mobility. It is characterized by stiff and immobile joints, muscle weakness, and contractures. There are different types of arthrogryposis, and one of them is distal arthrogryposis type 3, which is caused by a mutation in the PIEZO2 gene.

PIEZO2 is a gene that provides instructions for making a protein that is involved in the sense of touch and proprioception, which is the ability to sense the position and movement of our body parts. When the PIEZO2 gene is mutated, it can affect the development and function of the muscles, joints, and nerves, leading to the symptoms of arthrogryposis.

Symptoms of PIEZO2 Gene Arthrogryposis, distal, type 3

The symptoms of distal arthrogryposis type 3 can vary in severity and may include:

• Stiff and immobile joints, especially in the fingers and toes
• Contractures, which are permanent muscle contractions that prevent normal movement
• Weakness and atrophy of the muscles in the hands and feet
• Hypotonia, which is low muscle tone and results in reduced strength and flexibility
• Abnormal curvature of the spine (scoliosis)
• Clubfoot, which is a congenital deformity of the foot

Diagnosis of PIEZO2 Gene Arthrogryposis, distal, type 3

Diagnosis of distal arthrogryposis type 3 is based on clinical features, family history, and genetic testing. A physical examination can reveal the characteristic joint and muscle abnormalities, and imaging studies such as X-rays or MRI can help to assess the severity and extent of the deformities.

Genetic testing is the most definitive way to diagnose distal arthrogryposis type 3. Next-generation sequencing (NGS) technology can be used to analyze the PIEZO2 gene and identify any mutations or variants that may be causing the disorder. This type of testing can also help to confirm the diagnosis and rule out other possible genetic causes of arthrogryposis.

Cost of PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test

The cost of the PIEZO2 gene NGS Genetic Test for distal arthrogryposis type 3 in India is around INR 20,000. This cost may vary depending on the testing facility and any additional services or consultations that may be required.

Conclusion

Distal arthrogryposis type 3 is a rare genetic disorder that is caused by a mutation in the PIEZO2 gene. It can lead to joint and muscle deformities, stiffness, and contractures, which can affect mobility and quality of life. Genetic testing using NGS technology can help to diagnose the disorder and provide valuable information for treatment and management. If you or a loved one are experiencing symptoms of arthrogryposis, it is important to consult a healthcare professional and consider genetic testing to determine the underlying cause and explore possible treatment options.

For more information on PIEZO2 gene arthrogryposis, distal, type 3 NGS Genetic Testing, contact DNA Labs India, a trusted provider of genetic testing services in India.

 Note: We offer free home sample collection for online bookings for PIEZO2 Gene Arthrogryposis, distal, type 3 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.