SLC7A5 Gene Phenylketonuria Modifier
Welcome to DNA Labs UAE, a leading genetic laboratory specializing in advanced DNA testing. In this blog, we will discuss the SLC7A5 gene and its relationship to Phenylketonuria (PKU), as well as provide detailed information about our SLC7A5-related genetic test.
Test Name: SLC7A5 Gene Phenylketonuria Modifier
Test Components:
- Price: 4400.0 AED
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Metabolic Disorders
- Doctor: General Physician
- Test Department: Genetics
Pre Test Information:
Prior to undergoing the SLC7A5 Gene Phenylketonuria Modifier test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with Phenylketonuria modifier, SLC7A5 related.
Test Details:
The SLC7A5 gene codes for a protein called large neutral amino acid transporter small subunit 1 (LAT1). This protein is responsible for transporting large neutral amino acids, such as phenylalanine, across cell membranes. Phenylketonuria (PKU) is a genetic disorder characterized by the inability to break down phenylalanine, leading to its accumulation in the blood. If not managed properly, PKU can cause intellectual disability and other health problems.
The SLC7A5 gene has been identified as a potential modifier gene in PKU. Modifier genes can influence the severity or progression of a genetic disorder. Variations in the SLC7A5 gene may affect the transport of phenylalanine across cell membranes, potentially impacting the severity of PKU symptoms.
SLC7A5-related NGS genetic tests utilize next-generation sequencing (NGS) technology to analyze the SLC7A5 gene for variations or mutations. These tests help identify individuals with PKU who may have variations in the SLC7A5 gene, which could modify the course of their disease. This information is valuable in determining the most effective treatment and management strategies for individuals with PKU.
It is important to note that while SLC7A5 variations may contribute to the severity of PKU, they are not the sole cause of the disorder. PKU is primarily caused by mutations in the PAH gene, which codes for the enzyme phenylalanine hydroxylase. However, studying modifier genes like SLC7A5 provides valuable insights into the complex nature of genetic disorders like PKU.
If you suspect that you or a family member may have PKU or are interested in learning more about our SLC7A5-related genetic test, please consult with a general physician and contact our Genetics Test Department for further information.
Thank you for choosing DNA Labs UAE for your genetic testing needs. We are committed to providing accurate and comprehensive testing services to improve the health and well-being of our clients.
| Test Name | SLC7A5 Gene Phenylketonuria modifier SLC7A5 related Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| 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 |
| Test Details |
The SLC7A5 gene is a gene that codes for a protein called large neutral amino acid transporter small subunit 1 (LAT1). This protein is involved in the transport of amino acids across cell membranes, specifically the transport of large neutral amino acids like phenylalanine. Phenylketonuria (PKU) is a genetic disorder characterized by the inability to break down the amino acid phenylalanine. This leads to a buildup of phenylalanine in the blood and can cause intellectual disability and other health problems if not managed properly. The SLC7A5 gene has been identified as a potential modifier gene in PKU. Modifier genes are genes that can influence the severity or progression of a genetic disorder. Variations in the SLC7A5 gene may affect the transport of phenylalanine across cell membranes, potentially impacting the severity of PKU symptoms. SLC7A5-related NGS genetic tests are genetic tests that use next-generation sequencing (NGS) technology to analyze the SLC7A5 gene for variations or mutations. These tests can help identify individuals with PKU who may have variations in the SLC7A5 gene that could modify the course of their disease. This information can be useful in determining the best treatment and management strategies for individuals with PKU. It’s important to note that while SLC7A5 variations may contribute to the severity of PKU, they are not the sole cause of the disorder. PKU is primarily caused by mutations in the PAH gene, which codes for the enzyme phenylalanine hydroxylase. However, studying modifier genes like SLC7A5 can provide valuable insights into the complex nature of genetic disorders like PKU. |
