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PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test Cost

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

-21%

The PDHB gene plays a crucial role in the mitochondrial enzyme complex responsible for converting pyruvate into acetyl-CoA, a critical step in cellular energy production. Mutations in the PDHB gene can lead to Pyruvate Dehydrogenase E1-Beta Deficiency, a rare metabolic disorder that affects the body’s ability to break down carbohydrates, leading to a buildup of lactic acid and a range of clinical manifestations including neurological and developmental issues.

To diagnose this condition, a genetic test is available at DNA Labs UAE, specifically targeting the PDHB gene to identify mutations indicative of Pyruvate Dehydrogenase E1-Beta Deficiency. This test is crucial for confirming the diagnosis, understanding the disease’s progression, and informing treatment options. It involves collecting a DNA sample, typically through a blood draw, and analyzing the genetic sequence of the PDHB gene.

The cost of the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test at DNA Labs UAE is 4400 AED. This investment in testing can be invaluable for affected individuals and their families, offering insights into the condition and aiding in the management of symptoms through tailored therapeutic approaches.

Description

PDHB Gene Pyruvate dehydrogenase E1-beta deficiency Genetic Test

Components: PDHB Gene Pyruvate dehydrogenase E1-beta deficiency 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: Metabolic Disorders

Doctor: General Physician

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E1-beta deficiency.

Test Details: PDHB gene pyruvate dehydrogenase E1-beta deficiency NGS genetic test is a type of genetic test that uses next-generation sequencing (NGS) technology to identify mutations or variations in the PDHB gene associated with pyruvate dehydrogenase E1-beta deficiency. Pyruvate dehydrogenase E1-beta deficiency is a rare genetic disorder that affects the function of the pyruvate dehydrogenase complex, an enzyme involved in the conversion of pyruvate to acetyl-CoA, an important step in energy production. Mutations in the PDHB gene can lead to reduced or absent activity of the pyruvate dehydrogenase complex, resulting in a buildup of pyruvate and lactic acid in the body, leading to various symptoms and health problems. NGS genetic testing allows for the simultaneous analysis of multiple genes, including the PDHB gene, to identify any pathogenic or disease-causing mutations. This type of testing can provide a comprehensive evaluation of the genetic variants associated with pyruvate dehydrogenase E1-beta deficiency, helping to confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.

Test Name	PDHB Gene Pyruvate dehydrogenase E1-beta 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 PDHB Gene Pyruvate dehydrogenase E1-beta deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Pyruvate dehydrogenase E1-beta deficiency
Test Details	PDHB gene pyruvate dehydrogenase E1-beta deficiency NGS genetic test is a type of genetic test that uses next-generation sequencing (NGS) technology to identify mutations or variations in the PDHB gene associated with pyruvate dehydrogenase E1-beta deficiency. Pyruvate dehydrogenase E1-beta deficiency is a rare genetic disorder that affects the function of the pyruvate dehydrogenase complex, an enzyme involved in the conversion of pyruvate to acetyl-CoA, an important step in energy production. Mutations in the PDHB gene can lead to reduced or absent activity of the pyruvate dehydrogenase complex, resulting in a buildup of pyruvate and lactic acid in the body, leading to various symptoms and health problems. NGS genetic testing allows for the simultaneous analysis of multiple genes, including the PDHB gene, to identify any pathogenic or disease-causing mutations. This type of testing can provide a comprehensive evaluation of the genetic variants associated with pyruvate dehydrogenase E1-beta deficiency, helping to confirm a diagnosis, guide treatment decisions, and provide information about the risk of passing the condition on to future generations.