HMGCL Gene: Understanding 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder that affects the body’s ability to break down certain amino acids and fats. It is caused by a mutation in the HMGCL gene, which provides instructions for making the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase. This enzyme is important for the breakdown of a type of fat called ketones, which are used by the body for energy when glucose is not available.
Symptoms of HMGCL Deficiency
The symptoms of HMGCL deficiency can vary widely from person to person. Some individuals may have no symptoms at all, while others may experience severe symptoms that can be life-threatening. Some of the most common symptoms of HMGCL deficiency include:
- Poor feeding and failure to thrive in infants
- Recurrent episodes of vomiting and diarrhea
- Low blood sugar
- Enlarged liver and spleen
- Muscle weakness and fatigue
- Developmental delays and intellectual disability
Diagnosis of HMGCL Deficiency
Diagnosis of HMGCL deficiency is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Biochemical testing involves analyzing the levels of certain substances in the blood, urine, and/or cerebrospinal fluid. Genetic testing involves analyzing a sample of the patient’s DNA to look for mutations in the HMGCL gene.
NGS Genetic Test for HMGCL Deficiency
The most accurate way to diagnose HMGCL deficiency is through genetic testing. Next-generation sequencing (NGS) is a type of genetic testing that can analyze multiple genes at once, including the HMGCL gene. This test can identify mutations in the HMGCL gene with a high degree of accuracy, making it an important tool for diagnosing HMGCL deficiency.
Cost of NGS Genetic Test for HMGCL Deficiency
The cost of an NGS Genetic Test for HMGCL deficiency can vary depending on the testing laboratory and the specific tests ordered. At DNA Labs India, we offer an NGS Genetic Test for HMGCL deficiency for INR 20,000. This test includes sequencing of the HMGCL gene and analysis of the results by a team of experienced geneticists.
Conclusion
HMGCL deficiency is a rare and potentially life-threatening disorder that affects the body’s ability to break down certain amino acids and fats. Diagnosis of this disorder is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. NGS Genetic Testing is the most accurate way to diagnose HMGCL deficiency, and is available at DNA Labs India for a cost of INR 20,000.
If you suspect that you or a loved one may have HMGCL deficiency, it is important to seek medical attention right away. Early diagnosis and treatment can help to improve outcomes and prevent serious complications.
Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test
| Test Name | HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase 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 HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
| Disease | Metabolic Disorders |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase 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.
