ANKH Gene Craniometaphyseal Dysplasia NGS Genetic Test Cost INR:20000 Symptoms Diagnosis
Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that affects the development and growth of bones in the skull and metaphyseal regions of long bones. This disorder is caused by mutations in the ANKH gene that encodes a protein responsible for regulating the transport of inorganic pyrophosphate (PPi) in the extracellular matrix of bone tissue.
The ANKH gene is located on chromosome 5q14.3 and is expressed in chondrocytes, osteoblasts, and osteocytes. Mutations in this gene can lead to increased levels of PPi in the extracellular matrix, which can inhibit mineralization and lead to abnormal bone growth and development.
Symptoms of CMD
The symptoms of CMD vary widely from person to person and can range from mild to severe. Some common symptoms of CMD include:
- Abnormal bone growth in the skull and long bones
- Facial disfigurement
- Delayed motor development
- Seizures
- Hearing loss
- Headaches
- Dental problems
Diagnosis of CMD
Diagnosis of CMD is usually based on clinical symptoms, radiographic findings, and genetic testing. Radiographic findings may include thickened skull bones, widened metaphyses of long bones, and sclerosis of the cranial base. Genetic testing can confirm the presence of ANKH gene mutations.
NGS Genetic Test for CMD
Next-generation sequencing (NGS) Genetic Testing is a powerful tool for diagnosing CMD. This test can analyze the entire coding region of the ANKH gene and detect mutations with high accuracy and sensitivity. NGS Genetic Testing is a non-invasive test that requires only a small blood sample.
Cost of NGS Genetic Test for CMD
The cost of NGS Genetic Testing for CMD in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.
Conclusion
Craniometaphyseal dysplasia is a rare genetic disorder that can cause abnormal bone growth and development. Diagnosis of CMD is based on clinical symptoms, radiographic findings, and genetic testing. NGS Genetic Testing is a powerful tool for diagnosing CMD and can detect ANKH gene mutations with high accuracy and sensitivity. The cost of NGS Genetic Testing for CMD in India is approximately INR 20,000.
For more information about CMD and NGS Genetic Testing, contact DNA Labs India.
Test Name | ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test |
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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 ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test gene ANKH |
Disease | Dysmorphology |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test gene ANKH |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for ANKH Gene Craniometaphyseal dysplasia 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.