DMGDH Gene Dimethylglycine Dehydrogenase Deficiency NGS Genetic Test
DMGDH gene dimethylglycine dehydrogenase deficiency is a rare genetic disorder that affects the body’s ability to process glycine, an amino acid. This disorder is caused by mutations in the DMGDH gene, which provides instructions for making an enzyme called dimethylglycine dehydrogenase. This enzyme plays a crucial role in the breakdown of glycine in the body. When the DMGDH gene is mutated, it can result in a deficiency of the enzyme, leading to a buildup of glycine in the body.
DMGDH gene dimethylglycine dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. Individuals who inherit only one copy of the mutated gene are carriers and do not typically show any symptoms of the disorder.
Symptoms of DMGDH Gene Dimethylglycine Dehydrogenase Deficiency
The symptoms of DMGDH gene dimethylglycine dehydrogenase deficiency can vary widely between individuals. Some common symptoms include:
- Developmental delay
- Intellectual disability
- Seizures
- Muscle weakness
- Abnormal muscle tone
- Abnormal movements
- Failure to thrive
- Abnormalities in the size and shape of the brain
Some individuals with DMGDH gene dimethylglycine dehydrogenase deficiency may also experience episodes of metabolic crisis, which can be life-threatening. These episodes are triggered by stressors such as illness, fasting, or surgery, and can result in symptoms such as vomiting, lethargy, and breathing difficulties.
Diagnosis of DMGDH Gene Dimethylglycine Dehydrogenase Deficiency
DMGDH gene dimethylglycine dehydrogenase deficiency can be diagnosed through genetic testing. Next-generation sequencing (NGS) Genetic Testing is the most common method used to diagnose this disorder. This type of testing can analyze multiple genes at once and is highly accurate.
Diagnosis of DMGDH gene dimethylglycine dehydrogenase deficiency can also be confirmed through laboratory testing of glycine levels in the blood and urine.
Cost of DMGDH Gene Dimethylglycine Dehydrogenase Deficiency NGS Genetic Test
The cost of DMGDH gene dimethylglycine dehydrogenase deficiency NGS Genetic Testing in India is approximately INR 20,000. This cost may vary depending on the specific laboratory and testing method used.
Conclusion
DMGDH gene dimethylglycine dehydrogenase deficiency is a rare genetic disorder that can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and muscle weakness. Diagnosis of this disorder can be made through genetic testing, specifically NGS Genetic Testing. The cost of this testing in India is approximately INR 20,000.
If you suspect that you or a loved one may have DMGDH gene dimethylglycine dehydrogenase deficiency, it is important to speak with a healthcare provider. They can provide guidance on testing options and treatment options, if available.
| Test Name | DMGDH Gene Dimethylglycine dehydrogenase deficiency 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 DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Dimethylglycine dehydrogenase deficiency |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for DMGDH Gene Dimethylglycine dehydrogenase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with Dimethylglycine dehydrogenase deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for DMGDH Gene Dimethylglycine dehydrogenase deficiency 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.
