DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test cost INR:20000 symptoms diagnosis
Dyggve-Melchior-Clausen disease (DMC) is a rare genetic disorder that affects skeletal development. It is caused by mutations in the DYM gene, which provides instructions for making a protein called Dymeclin. This protein is involved in the formation and maintenance of bones and other tissues.
DMC is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Symptoms of DMC
The symptoms of DMC can vary widely, even among members of the same family who have the condition. Some common symptoms include:
- Short stature
- Scoliosis (curvature of the spine)
- Joint pain and stiffness
- Intellectual disability
- Delayed speech and language development
- Enlarged liver and spleen
Some people with DMC may also have abnormalities of the eyes, ears, and teeth.
Diagnosis of DMC
DMC is diagnosed based on a combination of clinical features and genetic testing. A doctor may suspect DMC based on a person’s symptoms and family history.
To confirm a diagnosis of DMC, a genetic test can be performed to look for mutations in the DYM gene. This test can be done using a technique called next-generation sequencing (NGS), which can analyze many genes at once and provide results quickly and accurately.
Cost of DMC genetic testing
The cost of DMC genetic testing using NGS technology in India is around INR 20,000. This cost may vary depending on the specific laboratory that performs the test and any additional services that may be required.
It is important to note that genetic testing for DMC and other rare diseases may not be covered by insurance, so patients should check with their insurance provider or the testing laboratory to determine the cost and any potential coverage options.
Conclusion
DMC is a rare genetic disorder that can cause a range of symptoms affecting skeletal development and other body systems. Genetic testing using NGS technology can provide an accurate diagnosis and help guide treatment and management options. However, it is important to be aware of the cost of testing and any potential insurance coverage issues.
If you or someone you know is experiencing symptoms of DMC, it is important to speak with a healthcare provider and consider genetic testing to determine the underlying cause of the condition.
Test Name | DYM Gene Dyggve-Melchior-Clausen 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 DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Dyggve-Melchior-Clausen disease |
Disease | Metabolic Disorders |
Method | NGS Technology |
Purpose | NULL |
Preparation | Ambient Room Temperature |
Fasting | Clinical History of Patient who is going for DYM Gene Dyggve-Melchior-Clausen disease NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Dyggve-Melchior-Clausen disease |
Get Reports | 3 to 4 Weeks |
Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for DYM Gene Dyggve-Melchior-Clausen 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.