ATP6AP2 Gene Parkinsonism with Spasticity – Symptoms, Diagnosis, and Genetic Testing Cost in India

Parkinsonism with spasticity is a rare genetic disorder caused by a mutation in the ATP6AP2 gene. This condition is inherited in an X-linked pattern, which means that it primarily affects males.

The ATP6AP2 gene provides instructions for making a protein that is involved in the maintenance of the acid-base balance of cells. A mutation in this gene can lead to the accumulation of toxic substances in the brain, causing damage to the cells that control movement and muscle tone.

Symptoms of ATP6AP2 Gene Parkinsonism with Spasticity

The symptoms of ATP6AP2 gene Parkinsonism with spasticity typically develop in childhood or adolescence and worsen over time. The most common symptoms include:

• Rigidity and stiffness of the limbs
• Difficulty with walking and balance
• Tremors or shaking
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Speech difficulties
• Intellectual disability

Other symptoms may include seizures, vision problems, and behavioral or emotional issues.

Diagnosis of ATP6AP2 Gene Parkinsonism with Spasticity

A diagnosis of ATP6AP2 gene Parkinsonism with spasticity is typically made based on a combination of clinical symptoms, family history, and genetic testing. A neurological exam may be performed to assess movement and muscle tone. Imaging tests, such as an MRI or CT scan, may also be used to evaluate the brain.

To confirm a diagnosis, genetic testing is required. Next-generation sequencing (NGS) is a type of genetic testing that can identify mutations in multiple genes at once. This testing can be performed on a blood or saliva sample.

Genetic Testing Cost in India

The cost of NGS genetic testing for ATP6AP2 gene Parkinsonism with spasticity in India typically ranges from INR 15,000 to INR 25,000. The exact cost may vary depending on the specific testing laboratory and any additional services or consultations required.

It is important to note that genetic testing may not be covered by insurance and may require out-of-pocket expenses.

Conclusion

ATP6AP2 gene Parkinsonism with spasticity is a rare genetic disorder that primarily affects males. It can cause a range of symptoms, including rigidity, tremors, and difficulty with movement and balance. A diagnosis is typically made through a combination of clinical evaluation and genetic testing. NGS genetic testing can identify mutations in the ATP6AP2 gene and other genes associated with Parkinsonism with spasticity. The cost of genetic testing in India may vary depending on the specific laboratory and any additional services required.

If you suspect that you or a loved one may have ATP6AP2 gene Parkinsonism with spasticity, it is important to seek medical evaluation and genetic testing. Early diagnosis and intervention can help to manage symptoms and improve quality of life.

 Note: We offer free home sample collection for online bookings for ATP6AP2 Gene Parkinsonism with spasticity, X-linked 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.