SLC2A2 Gene Fanconi-Bickel syndrome Genetic Test
Test Name: SLC2A2 Gene Fanconi-Bickel syndrome Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type: Hepatology Nephrology Endocrinology Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test gene SLC2A2
Test Details
The SLC2A2 gene is responsible for producing a protein called glucose transporter 2 (GLUT2). Mutations in this gene can lead to a rare genetic disorder called Fanconi-Bickel syndrome (FBS). Fanconi-Bickel syndrome is an autosomal recessive disorder characterized by impaired glucose transport and metabolism. It affects various organs and systems in the body, including the liver, kidneys, and intestines. Individuals with FBS often present with symptoms such as hepatomegaly (enlarged liver), renal dysfunction, growth retardation, and the inability to break down and use glucose properly.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of mutations in the SLC2A2 gene, as well as other genes associated with similar disorders. By performing an NGS genetic test, healthcare professionals can identify mutations in the SLC2A2 gene that are responsible for Fanconi-Bickel syndrome. This information can help with diagnosis, genetic counseling, and potentially guide treatment options for affected individuals and their families.
| Test Name | SLC2A2 Gene Fanconi-Bickel syndrome 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 | Hepatology Nephrology Endocrinology Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC2A2 Gene Fanconi-Bickel syndrome NGS Genetic DNA Test gene SLC2A2 |
| Test Details |
The SLC2A2 gene is responsible for producing a protein called glucose transporter 2 (GLUT2). Mutations in this gene can lead to a rare genetic disorder called Fanconi-Bickel syndrome (FBS). Fanconi-Bickel syndrome is an autosomal recessive disorder characterized by impaired glucose transport and metabolism. It affects various organs and systems in the body, including the liver, kidneys, and intestines. Individuals with FBS often present with symptoms such as hepatomegaly (enlarged liver), renal dysfunction, growth retardation, and the inability to break down and use glucose properly. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of mutations in the SLC2A2 gene, as well as other genes associated with similar disorders. By performing an NGS genetic test, healthcare professionals can identify mutations in the SLC2A2 gene that are responsible for Fanconi-Bickel syndrome. This information can help with diagnosis, genetic counseling, and potentially guide treatment options for affected individuals and their families. |
