NDUFS1 Gene Mitochondrial Complex I Deficiency Genetic Test
Test Name: NDUFS1 Gene Mitochondrial Complex I Deficiency 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: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for NDUFS1 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFS1 Gene Mitochondrial Complex I Deficiency.
Test Details
NDUFS1 gene mitochondrial complex I deficiency is a genetic disorder that affects the function of mitochondria, the energy-producing structures within cells. This condition is caused by mutations in the NDUFS1 gene, which provides instructions for making a protein called NADH dehydrogenase [ubiquinone] iron-sulfur protein 1.
Mitochondrial complex I is the first enzyme complex in the electron transport chain, which is responsible for generating energy in the form of ATP. Mutations in the NDUFS1 gene result in a dysfunctional complex I, leading to a decrease in energy production and the accumulation of toxic byproducts.
NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic mutations or variants. In the case of NDUFS1 gene mitochondrial complex I deficiency, NGS genetic testing can be used to identify mutations in the NDUFS1 gene, confirming the diagnosis of the disorder.
NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify genetic variations. This technique allows for the detection of both common and rare genetic variants, providing a comprehensive analysis of the NDUFS1 gene and other relevant genes associated with mitochondrial function.
The results of NGS genetic testing can help healthcare professionals determine the underlying cause of mitochondrial complex I deficiency in an individual, which can aid in the development of personalized treatment plans and genetic counseling. Additionally, NGS testing can also help identify carriers of NDUFS1 gene mutations, which can be useful for family planning purposes.
| Test Name | NDUFS1 Gene Mitochondrial complex I deficiency 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 NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with NDUFS1 Gene Mitochondrial complex I deficiency |
| Test Details |
NDUFS1 gene mitochondrial complex I deficiency is a genetic disorder that affects the function of mitochondria, the energy-producing structures within cells. This condition is caused by mutations in the NDUFS1 gene, which provides instructions for making a protein called NADH dehydrogenase [ubiquinone] iron-sulfur protein 1. Mitochondrial complex I is the first enzyme complex in the electron transport chain, which is responsible for generating energy in the form of ATP. Mutations in the NDUFS1 gene result in a dysfunctional complex I, leading to a decrease in energy production and the accumulation of toxic byproducts. NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic mutations or variants. In the case of NDUFS1 gene mitochondrial complex I deficiency, NGS genetic testing can be used to identify mutations in the NDUFS1 gene, confirming the diagnosis of the disorder. NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify genetic variations. This technique allows for the detection of both common and rare genetic variants, providing a comprehensive analysis of the NDUFS1 gene and other relevant genes associated with mitochondrial function. The results of NGS genetic testing can help healthcare professionals determine the underlying cause of mitochondrial complex I deficiency in an individual, which can aid in the development of personalized treatment plans and genetic counseling. Additionally, NGS testing can also help identify carriers of NDUFS1 gene mutations, which can be useful for family planning purposes. |