FH Gene Fumarase Deficiency Genetic Test
Test Name: FH Gene Fumarase Deficiency Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 FH Gene Fumarase Deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Fumarase deficiency.
About FH Gene Fumarase Deficiency
FH Gene Fumarase Deficiency is a rare genetic disorder that affects the function of the FH gene. The FH gene provides instructions for producing the enzyme fumarase, which plays a crucial role in the citric acid cycle, a process that generates energy in cells.
Fumarase deficiency can result in a range of symptoms, including developmental delay, intellectual disability, seizures, movement disorders, and impaired growth. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated FH gene (one from each parent) to develop the condition.
NGS Genetic Testing
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 genetic variants, including mutations, in a more efficient and comprehensive manner compared to traditional sequencing methods.
NGS genetic testing for FH Gene Fumarase Deficiency involves sequencing the FH gene to identify any mutations or variants that may be present. This can help in confirming a diagnosis and determining the specific genetic cause of the condition. It may also be used for carrier testing, prenatal testing, or to assess the risk of passing on the condition to future generations.
It is important to note that genetic testing for FH Gene Fumarase Deficiency should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support.
| Test Name | FH Gene Fumarase deficiency 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 FH Gene Fumarase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Fumarase deficiency |
| Test Details |
FH Gene Fumarase deficiency is a rare genetic disorder that affects the function of the FH gene. The FH gene provides instructions for producing the enzyme fumarase, which plays a crucial role in the citric acid cycle, a process that generates energy in cells. Fumarase deficiency can result in a range of symptoms, including developmental delay, intellectual disability, seizures, movement disorders, and impaired growth. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated FH gene (one from each parent) to develop the condition. 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 genetic variants, including mutations, in a more efficient and comprehensive manner compared to traditional sequencing methods. NGS genetic testing for FH Gene Fumarase deficiency involves sequencing the FH gene to identify any mutations or variants that may be present. This can help in confirming a diagnosis and determining the specific genetic cause of the condition. It may also be used for carrier testing, prenatal testing, or to assess the risk of passing on the condition to future generations. It is important to note that genetic testing for FH Gene Fumarase deficiency should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate guidance and support. |
