SLC25A15 Gene Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome Genetic Test
Test Name: SLC25A15 Gene Hyperornithinemia-Hyperammonemia-Homocitrullinuria 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: Metabolic Disorders
Doctor: General Physician
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for SLC25A15 Gene Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Test Details:
The SLC25A15 gene is associated with a rare genetic disorder called Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. This syndrome is characterized by elevated levels of ornithine, ammonia, and homocitrulline in the blood and urine.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of HHH syndrome, NGS genetic testing can be used to identify mutations or variations in the SLC25A15 gene that are responsible for the disorder.
The purpose of this test is to confirm a diagnosis of HHH syndrome in individuals who exhibit symptoms such as developmental delay, intellectual disability, seizures, liver dysfunction, and elevated ammonia levels. It can also be used for carrier testing in individuals with a family history of HHH syndrome.
NGS genetic testing for HHH syndrome typically involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the SLC25A15 gene.
The results of the test can help healthcare professionals determine the appropriate management and treatment strategies for individuals with HHH syndrome. This may include dietary modifications, medications to reduce ammonia levels, and supportive care to manage symptoms.
It’s important to note that genetic testing for HHH syndrome should be conducted and interpreted by a qualified healthcare professional or genetic counselor who specializes in genetic disorders. They can provide personalized guidance and counseling based on the individual’s specific genetic results and medical history.
| Test Name | SLC25A15 Gene Hyperornithinemia- Hyperammonemia – Homocitrullinuria 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for SLC25A15 Gene Hyperornithinemia- Hyperammonemia – Homocitrullinuria syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperornithinemia- Hyperammonemia – Homocitrullinuria syndrome |
| Test Details |
The SLC25A15 gene is associated with a rare genetic disorder called Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. This syndrome is characterized by elevated levels of ornithine, ammonia, and homocitrulline in the blood and urine. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of HHH syndrome, NGS genetic testing can be used to identify mutations or variations in the SLC25A15 gene that are responsible for the disorder. The purpose of this test is to confirm a diagnosis of HHH syndrome in individuals who exhibit symptoms such as developmental delay, intellectual disability, seizures, liver dysfunction, and elevated ammonia levels. It can also be used for carrier testing in individuals with a family history of HHH syndrome. NGS genetic testing for HHH syndrome typically involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology to identify any mutations or variations in the SLC25A15 gene. The results of the test can help healthcare professionals determine the appropriate management and treatment strategies for individuals with HHH syndrome. This may include dietary modifications, medications to reduce ammonia levels, and supportive care to manage symptoms. It’s important to note that genetic testing for HHH syndrome should be conducted and interpreted by a qualified healthcare professional or genetic counselor who specializes in genetic disorders. They can provide personalized guidance and counseling based on the individual’s specific genetic results and medical history. |
