SLC7A5 Gene Phenylketonuria Modifier: Symptoms, Diagnosis, and Cost of SLC7A5 related NGS Genetic Test in India

Introduction

Phenylketonuria (PKU) is a rare genetic disorder that affects the way the body processes phenylalanine, an amino acid found in many foods. It is caused by mutations in the PAH gene that codes for phenylalanine hydroxylase enzyme. As a result, people with PKU cannot properly metabolize phenylalanine, which can lead to intellectual disability, seizures, and other serious health problems. However, recent research has identified a modifier gene, SLC7A5, which can affect the severity of PKU symptoms. In this blog post, we will discuss the symptoms and diagnosis of SLC7A5 related PKU and the cost of related NGS Genetic Tests in India.

SLC7A5 Gene and PKU Modifier

SLC7A5 codes for a protein called L-type amino acid transporter 1 (LAT1), which helps transport amino acids across cell membranes. Studies have shown that mutations in SLC7A5 can affect the transport of phenylalanine into the brain, which can affect the severity of PKU symptoms. Individuals with PKU who have mutations in both PAH and SLC7A5 genes may have a milder form of the condition, while those with mutations in PAH but not SLC7A5 may have a more severe form of PKU.

SLC7A5 Related PKU Symptoms

The symptoms of PKU can vary depending on the severity of the condition and the age of onset. In infants, symptoms may include:

• Developmental delays
• Intellectual disability
• Seizures
• Behavioral problems
• Hyperactivity

In older children and adults, untreated PKU can cause:

• Mental health problems
• Difficulty concentrating
• Memory problems
• Behavioral problems
• Skin rashes

Diagnosis of SLC7A5 Related PKU

PKU is usually diagnosed through newborn screening, which involves a blood test to measure the levels of phenylalanine in the baby’s blood. If PKU is suspected, additional tests may be performed to confirm the diagnosis and determine the severity of the condition. Genetic testing may also be recommended to identify mutations in the PAH and SLC7A5 genes.

Cost of SLC7A5 Related NGS Genetic Test in India

Next-generation sequencing (NGS) technology has made it possible to test for mutations in multiple genes at once, including PAH and SLC7A5. The cost of SLC7A5 related NGS Genetic Tests in India ranges from INR 15,000 to INR 20,000, depending on the laboratory and the specific test ordered. Some laboratories may also offer packages that include testing for multiple genes associated with PKU or other genetic conditions.

Conclusion

SLC7A5 is a modifier gene that can affect the severity of PKU symptoms. Individuals with mutations in both PAH and SLC7A5 genes may have a milder form of the condition, while those with mutations in PAH but not SLC7A5 may have a more severe form of PKU. The symptoms of PKU can vary depending on the severity of the condition and the age of onset. Diagnosis usually involves a blood test to measure the levels of phenylalanine, with genetic testing used to confirm the diagnosis and identify mutations in the PAH and SLC7A5 genes. The cost of SLC7A5 related NGS Genetic Tests in India ranges from INR 15,000 to INR 20,000. If you suspect that you or your child may have PKU, it is important to talk to a healthcare provider and get tested.

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 SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic Test

 Note: We offer free home sample collection for online bookings for SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related 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.