FBXL4 Gene Mitochondrial DNA Depletion Syndrome Type 13 Genetic Test
Components: FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 Genetic Test
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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with FBXL4 Gene Mitochondrial DNA depletion syndrome type 13.
Test Details
The FBXL4 gene is responsible for providing instructions to make a protein that is involved in maintaining the health and function of mitochondria, which are the energy-producing structures within cells. Mutations in the FBXL4 gene can lead to a condition called mitochondrial DNA depletion syndrome type 13.
Mitochondrial DNA depletion syndrome is a group of genetic disorders characterized by a reduction in the amount of mitochondrial DNA (mtDNA) present in cells. This reduction impairs the ability of mitochondria to produce energy, leading to various symptoms and complications.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of mitochondrial DNA depletion syndrome type 13, NGS genetic testing can be used to identify mutations in the FBXL4 gene, allowing for a diagnosis of the condition.
The NGS genetic test for FBXL4 gene mutations involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology, which reads the genetic code of the FBXL4 gene and identifies any mutations or variations.
The results of the NGS genetic test can help confirm a diagnosis of mitochondrial DNA depletion syndrome type 13 and provide information about the specific FBXL4 gene mutations present. This information can be used for genetic counseling, family planning, and potentially for guiding treatment options in the future.
It is important to consult with a healthcare professional or a genetic counselor for more information about the specific testing process, its benefits, limitations, and potential implications.
| Test Name | FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Neurological Disorders |
| Doctor | Neurologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 |
| Test Details |
The FBXL4 gene is responsible for providing instructions to make a protein that is involved in maintaining the health and function of mitochondria, which are the energy-producing structures within cells. Mutations in the FBXL4 gene can lead to a condition called mitochondrial DNA depletion syndrome type 13. Mitochondrial DNA depletion syndrome is a group of genetic disorders characterized by a reduction in the amount of mitochondrial DNA (mtDNA) present in cells. This reduction impairs the ability of mitochondria to produce energy, leading to various symptoms and complications. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the case of mitochondrial DNA depletion syndrome type 13, NGS genetic testing can be used to identify mutations in the FBXL4 gene, allowing for a diagnosis of the condition. The NGS genetic test for FBXL4 gene mutations involves obtaining a DNA sample, usually through a blood sample or cheek swab. The DNA is then sequenced using NGS technology, which reads the genetic code of the FBXL4 gene and identifies any mutations or variations. The results of the NGS genetic test can help confirm a diagnosis of mitochondrial DNA depletion syndrome type 13 and provide information about the specific FBXL4 gene mutations present. This information can be used for genetic counseling, family planning, and potentially for guiding treatment options in the future. It is important to consult with a healthcare professional or a genetic counselor for more information about the specific testing process, its benefits, limitations, and potential implications. |
