MTHFR Gene Homocystinuria NGS Genetic Test: Symptoms, Diagnosis and Cost in India
Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. It is caused by mutations in the MTHFR gene, which codes for an enzyme that converts homocysteine to methionine. When this enzyme is not working correctly, homocysteine levels can build up in the blood, leading to a range of symptoms.
Symptoms of Homocystinuria
Homocystinuria can cause a range of symptoms that vary in severity, including:
- Intellectual disability
- Developmental delays
- Seizures
- Eye problems, including nearsightedness, cataracts, and dislocated lenses
- Skeletal abnormalities, such as scoliosis and thin bones
- Cardiovascular disease
- Increased risk of blood clots
These symptoms can develop in infancy or childhood and can worsen over time if left untreated.
Diagnosis of Homocystinuria
Diagnosis of homocystinuria involves a combination of clinical evaluation, biochemical testing, and genetic testing. Doctors will evaluate the patient’s symptoms, medical history, and family history to determine if homocystinuria is a possible diagnosis.
Biochemical testing involves measuring homocysteine levels in the blood and urine. Elevated levels of homocysteine can indicate the presence of homocystinuria. Genetic testing involves sequencing the MTHFR gene to identify mutations that may be causing the disorder.
MTHFR Gene Homocystinuria NGS Genetic Test
The MTHFR Gene Homocystinuria NGS Genetic Test is a comprehensive genetic test that can identify mutations in the MTHFR gene that may be causing homocystinuria. This test uses next-generation sequencing (NGS) technology to sequence the entire MTHFR gene and detect any mutations or variants.
The cost of the MTHFR Gene Homocystinuria NGS Genetic Test in India is approximately INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.
Conclusion
Homocystinuria is a genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and cardiovascular disease. Diagnosis involves a combination of clinical evaluation, biochemical testing, and genetic testing. The MTHFR Gene Homocystinuria NGS Genetic Test is a comprehensive genetic test that can identify mutations in the MTHFR gene that may be causing the disorder. This test is available at DNA Labs India at a cost of approximately INR 20,000.
If you suspect that you or a loved one may have homocystinuria, it is important to seek medical attention and genetic testing as soon as possible. Early diagnosis and treatment can help manage symptoms and prevent 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 MTHFR Gene Homocystinuria NGS Genetic Test
| Test Name | MTHFR Gene Homocystinuria 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 MTHFR Gene Homocystinuria NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTHFR Gene Homocystinuria NGS Genetic Test gene MTHFR |
| Disease | Vascular Diseases |
| Method | NGS Technology |
| Purpose | NULL |
| Preparation | Ambient Room Temperature |
| Fasting | Clinical History of Patient who is going for MTHFR Gene Homocystinuria NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MTHFR Gene Homocystinuria NGS Genetic Test gene MTHFR |
| Get Reports | 3 to 4 Weeks |
| Test Price | INR ₹ 20000 |
Note: We offer free home sample collection for online bookings for MTHFR Gene Homocystinuria 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.
