Understanding IDH1 Gene Metaphyseal Chondromatosis with Increased Urinary Excretion of D-2-Hydroxyglutarate
IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate is a rare genetic disorder that affects the bones, causing them to become deformed and weak. It is caused by a mutation in the IDH1 gene, which leads to an accumulation of D-2-hydroxyglutarate in the urine.
Symptoms
The symptoms of IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate vary from person to person. Some common symptoms include:
- Short stature
- Bowed legs
- Flat feet
- Widened fingers
- Joint pain and stiffness
- Difficulty walking
These symptoms typically begin in childhood and become more severe over time.
Diagnosis
Diagnosis of IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate is typically made through genetic testing. This involves analyzing a sample of the patient’s DNA to look for mutations in the IDH1 gene.
In addition to genetic testing, doctors may also perform imaging tests such as X-rays or MRIs to look for bone abnormalities.
NGS Genetic Test
NGS (Next Generation Sequencing) Genetic Test is a powerful tool that can be used to diagnose IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate. This test involves sequencing the patient’s DNA and analyzing it for mutations in the IDH1 gene.
The cost of the NGS Genetic Test for IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate in India is typically around INR 20,000.
Treatment
Currently, there is no cure for IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate. Treatment is focused on managing the symptoms and preventing complications.
Treatment options may include:
- Pain management
- Physical therapy
- Surgery to correct bone deformities
Conclusion
IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate is a rare genetic disorder that affects the bones. Diagnosis is typically made through genetic testing, and treatment is focused on managing symptoms. The NGS Genetic Test for this condition is available in India at a cost of around INR 20,000.
If you or a loved one are experiencing symptoms of IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate, it is important to speak with a healthcare professional for proper diagnosis and treatment.
Contact DNA Labs India for more information on genetic testing and diagnosis of IDH1 gene metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate.
| Test Name | IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test |
|---|---|
| Sample type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Test type | Dermatologist |
| Pre-test Information | Clinical History of Patient who is going for IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test gene IDH1 |
| Disease | Osteology Dermatology Immunology Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test gene IDH1 |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate 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.
