GALACTOSEMIA (GALT) GENE MUTATION DETECTION Test
GALACTOSEMIA (GALT) is a rare genetic disorder that affects the body’s ability to process galactose, a type of sugar found in milk and dairy products. This condition is caused by mutations in the GALT gene, which provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase. Without this enzyme, galactose builds up in the body, causing a range of symptoms and complications.
Symptoms of GALACTOSEMIA (GALT) Gene Mutation
The symptoms of GALACTOSEMIA (GALT) gene mutation can vary widely, depending on the severity of the condition. Some common symptoms include:
- Jaundice
- Lack of appetite
- Weight loss
- Vomiting
- Diarrhea
- Lethargy
- Developmental delays
- Speech difficulties
- Intellectual disability
- Cataracts
- Enlarged liver
- Enlarged spleen
Diagnosis of GALACTOSEMIA (GALT) Gene Mutation
GALACTOSEMIA (GALT) gene mutation can be diagnosed through a blood test that measures the level of galactose-1-phosphate uridylyltransferase in the blood. This test is typically done on newborns as part of routine screening for genetic disorders. If the test is positive, further testing is done to confirm the diagnosis.
GALACTOSEMIA (GALT) Gene Mutation Detection Test Cost
The cost of the GALACTOSEMIA (GALT) gene mutation detection test in India is INR 11500. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.
Conclusion
If you or someone you know is experiencing symptoms of GALACTOSEMIA (GALT) gene mutation, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help prevent complications and improve outcomes. The GALACTOSEMIA (GALT) gene mutation detection test is a simple and effective way to diagnose this condition, and it is available at DNA Labs India at an affordable cost.
For more information about this test or to schedule an appointment, please contact DNA Labs India today.
Galactose-1-phosphate uridyltransferase (or GALT) is an enzyme responsible for converting ingested galactose to glucose. This test helps in determining the mutation responsible for Galactosemia.
Test Name | Galactosemia (GALT) Gene Mutation Detection Test |
---|---|
Sample type | 4 mL (2 mL min.) whole blood from 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Test type | Pediatrician |
Pre-test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Disease | Inborn Errors of Metabolism |
Method | PCR Sequencing |
Purpose | NULL |
Preparation | Room Temperature: NA, Refrigerator:1 week, Frozen: NA |
Fasting | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Get Reports | Sample Daily by 11am; Report 15 days |
Test Price | INR ₹ 11500 |
Note: We offer free home sample collection for online bookings for Galactosemia (GALT) Gene Mutation Detection Test and the test costs a special discounted price of 11500 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.