Understanding Menkes Disease and the Role of ATP7A Gene: NGS Genetic Test Cost INR 20,000
Menkes disease is a rare genetic disorder that affects copper metabolism in the body. It is caused by a mutation in the ATP7A gene, which is responsible for encoding a protein that helps transport copper in the body. Menkes disease is also known as Menkes syndrome or kinky hair disease due to the characteristic appearance of hair in affected individuals.
Symptoms of Menkes Disease
Menkes disease is usually diagnosed in infancy or early childhood. The symptoms may vary from mild to severe and may include:
- Weak muscle tone (hypotonia)
- Slow growth and development
- Developmental delay
- Abnormal hair growth or hair loss
- Seizures
- Intellectual disability
- Feeding difficulties
- Gastrointestinal problems
- Skeletal abnormalities
- Increased susceptibility to infections
Diagnosis of Menkes Disease
The diagnosis of Menkes disease is based on clinical symptoms, physical examination, and genetic testing. A physician may conduct a physical examination to look for signs of copper deficiency, such as abnormal hair growth, skin changes, and bone abnormalities. A genetic test can confirm the diagnosis by detecting mutations in the ATP7A gene.
ATP7A Gene Testing
ATP7A gene testing is performed using Next Generation Sequencing (NGS) technology. NGS is a high-throughput DNA sequencing method that enables the simultaneous analysis of multiple genes. This technology allows for the detection of mutations in the ATP7A gene with high sensitivity and specificity. The test requires a blood sample from the patient, which is then sent to a laboratory for analysis. The results of the test can help confirm the diagnosis of Menkes disease and provide information about the specific mutation in the ATP7A gene that is causing the disease.
NGS Genetic Test Cost INR 20,000
The cost of NGS Genetic Testing for Menkes disease in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific test ordered. It is important to note that genetic testing may not be covered by insurance, and patients should check with their insurance provider to determine coverage.
Conclusion
Menkes disease is a rare genetic disorder that affects copper metabolism in the body. It is caused by a mutation in the ATP7A gene, which is responsible for encoding a protein that helps transport copper in the body. NGS Genetic Testing is a reliable method for diagnosing Menkes disease and detecting mutations in the ATP7A gene. The cost of NGS Genetic Testing in India is approximately INR 20,000. It is important for patients to consult with their healthcare provider and insurance company to determine coverage and eligibility for genetic testing.
At DNA Labs India, we offer NGS Genetic Testing for Menkes disease and other genetic disorders. Our team of experts uses the latest technology and techniques to provide accurate and reliable results. Contact us today to schedule an appointment or learn more about our services.
| Test Name | ATP7A Gene Menkes disease NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | General Physician |
| Pre-test Information | Clinical History of Patient who is going for ATP7A Gene Menkes disease NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP7A Gene Menkes disease NGS Genetic Test gene ATP7A |
| Disease | Hepatology Nephrology Endocrinology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for ATP7A Gene Menkes disease NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATP7A Gene Menkes disease NGS Genetic Test gene ATP7A |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ATP7A Gene Menkes disease 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.
