Test Name	SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic DNA Test
Test type	General Physician
Pre-test Information	Clinical History of Patient who is going for SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phenylketonuria modifier, SLC7A5 related
Report Delivery	3 to 4 Weeks
Components
Price	₹ 20000
Method	NGS Technology

Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC7A5 gene for Phenylketonuria modifier, SLC7A5 related

PreTest Information

Clinical History of Patient who is going for SLC7A5 Gene Phenylketonuria modifier, SLC7A5 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Phenylketonuria modifier, SLC7A5 related

Detail Description

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