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FH Gene Fumarase Deficiency Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The FH Gene Fumarase Deficiency Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, designed to identify mutations in the FH gene, which can lead to Fumarase Deficiency. This rare genetic disorder interferes with the cell’s ability to generate energy, leading to a spectrum of physical and developmental challenges. The test, priced at 4400 AED, involves analyzing the patient’s DNA to pinpoint any genetic alterations in the FH gene, enabling early diagnosis and management of the condition. Through this test, families can gain valuable insights into the genetic makeup and potential health risks, allowing for informed decisions regarding healthcare and family planning.

Description

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: Dysmorphology

Doctor: Pediatrics

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 FH Gene Fumarase deficiency NGS Genetic DNA Test gene FH

Test Details: FH Gene Fumarase deficiency NGS Genetic Test is a genetic test that uses Next-Generation Sequencing (NGS) technology to analyze the FH gene for mutations associated with Fumarase deficiency. Fumarase deficiency is a rare genetic disorder that affects the metabolism of fumarate, leading to various symptoms including developmental delay, intellectual disability, seizures, and neurological problems. The NGS genetic test involves sequencing the entire coding region of the FH gene, as well as selected non-coding regions, to identify any genetic variants or mutations that may be present. This test can help confirm a diagnosis of Fumarase deficiency and provide information about the specific genetic variant causing the condition. The FH gene encodes the enzyme fumarase, which is involved in the citric acid cycle and plays a crucial role in energy production within cells. Mutations in the FH gene can disrupt the normal function of the enzyme, leading to the accumulation of fumarate and the development of Fumarase deficiency. NGS technology allows for the simultaneous analysis of multiple genes, making it a powerful tool for genetic testing. It can detect a wide range of genetic variants, including small insertions, deletions, and point mutations, providing a comprehensive assessment of the FH gene.

The FH Gene Fumarase deficiency NGS Genetic Test is typically performed on a blood or saliva sample. The sample is sent to a specialized laboratory where the DNA is extracted and sequenced using NGS technology. The resulting data is then analyzed and interpreted by genetic experts to identify any pathogenic mutations or variants. The results of the test can help guide clinical management and treatment decisions for individuals with Fumarase deficiency. It can also provide information about the risk of passing the condition on to future generations and assist with family planning.

It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics. Genetic counseling is often recommended before and after testing to ensure individuals and families fully understand the implications and potential limitations of the results.

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	Dysmorphology
Doctor	Pediatrics
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 FH Gene Fumarase deficiency NGS Genetic DNA Test gene FH
Test Details	FH Gene Fumarase deficiency NGS Genetic Test is a genetic test that uses Next-Generation Sequencing (NGS) technology to analyze the FH gene for mutations associated with Fumarase deficiency. Fumarase deficiency is a rare genetic disorder that affects the metabolism of fumarate, leading to various symptoms including developmental delay, intellectual disability, seizures, and neurological problems. The NGS genetic test involves sequencing the entire coding region of the FH gene, as well as selected non-coding regions, to identify any genetic variants or mutations that may be present. This test can help confirm a diagnosis of Fumarase deficiency and provide information about the specific genetic variant causing the condition. The FH gene encodes the enzyme fumarase, which is involved in the citric acid cycle and plays a crucial role in energy production within cells. Mutations in the FH gene can disrupt the normal function of the enzyme, leading to the accumulation of fumarate and the development of Fumarase deficiency. NGS technology allows for the simultaneous analysis of multiple genes, making it a powerful tool for genetic testing. It can detect a wide range of genetic variants, including small insertions, deletions, and point mutations, providing a comprehensive assessment of the FH gene. The FH Gene Fumarase deficiency NGS Genetic Test is typically performed on a blood or saliva sample. The sample is sent to a specialized laboratory where the DNA is extracted and sequenced using NGS technology. The resulting data is then analyzed and interpreted by genetic experts to identify any pathogenic mutations or variants. The results of the test can help guide clinical management and treatment decisions for individuals with Fumarase deficiency. It can also provide information about the risk of passing the condition on to future generations and assist with family planning. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics. Genetic counseling is often recommended before and after testing to ensure individuals and families fully understand the implications and potential limitations of the results.