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HADHA Gene Trifunctional protein deficiency Genetic Test Cost

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

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The HADHA gene encodes for a subunit of the mitochondrial trifunctional protein (MTP), an enzyme complex pivotal in the beta-oxidation of long-chain fatty acids. A deficiency in this enzyme, known as Trifunctional Protein Deficiency, can lead to a range of metabolic disorders, presenting various symptoms such as hypoglycemia, cardiomyopathy, liver dysfunction, and muscle weakness. It is a genetic condition that can have severe implications on an individual’s health if not diagnosed and managed properly.

To diagnose this condition, a genetic test targeting the HADHA gene can be conducted. This test involves analyzing the DNA to identify mutations in the HADHA gene that may lead to Trifunctional Protein Deficiency. It is a crucial step for individuals with a clinical presentation of the disease or for those with a family history, providing them with essential information for management and treatment plans.

In the United Arab Emirates, this specific genetic test is available at DNA Labs UAE. The cost of the test is set at 4400 AED. DNA Labs UAE is equipped with advanced genetic testing technologies and staffed by professionals skilled in conducting and interpreting genetic tests, ensuring accurate and reliable results for patients and their families. This test is not only pivotal for diagnosis but also plays a significant role in the genetic counseling process, helping families understand the risk of recurrence in future pregnancies and informing them about potential treatment and management strategies.

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HADHA Gene Trifunctional Protein Deficiency Genetic Test

At DNA Labs UAE, we offer the HADHA Gene Trifunctional Protein Deficiency Genetic Test. This test analyzes the HADHA gene for mutations or variations that may be associated with trifunctional protein deficiency, a rare genetic disorder affecting fat metabolism in the body.

Test Components and Price

Test Name: HADHA Gene Trifunctional Protein Deficiency Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition and Report Delivery

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type and Doctor

Test Type: Metabolic Disorders

Doctor: General Physician

Test Department

Test Department: Genetics

Pre Test Information

Before undergoing the HADHA Gene Trifunctional Protein Deficiency Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Trifunctional Protein Deficiency.

Test Details

The HADHA gene trifunctional protein deficiency NGS genetic test examines the HADHA gene for mutations or variations associated with trifunctional protein deficiency. This test utilizes next-generation sequencing (NGS) technology to analyze the entire coding region of the HADHA gene, which provides instructions for making the trifunctional protein. NGS allows for a comprehensive analysis, detecting small variations or mutations that may be missed by other genetic testing methods.

Early diagnosis of trifunctional protein deficiency is crucial in managing the condition and preventing complications. It is important to note that this test should be performed by a qualified geneticist or genetic testing laboratory. Genetic counseling may also be recommended before and after the test to provide individuals with information about the implications of the test results and the condition itself.

Test Name HADHA Gene Trifunctional protein 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 HADHA Gene Trifunctional protein deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Trifunctional protein deficiency
Test Details

HADHA gene trifunctional protein deficiency NGS genetic test is a genetic test that analyzes the HADHA gene for mutations or variations that may be associated with trifunctional protein deficiency. Trifunctional protein deficiency is a rare genetic disorder that affects the metabolism of fats in the body.

The test uses next-generation sequencing (NGS) technology to examine the entire coding region of the HADHA gene, which provides instructions for making the trifunctional protein. NGS allows for a comprehensive analysis of the gene, enabling the detection of small variations or mutations that may be missed by other genetic testing methods.

By identifying mutations or variations in the HADHA gene, the test can help diagnose trifunctional protein deficiency in individuals who exhibit symptoms or have a family history of the disorder. Early diagnosis can be crucial in managing the condition and preventing complications.

It is important to note that the HADHA gene trifunctional protein deficiency NGS genetic test is a specialized test and should be performed by a qualified geneticist or genetic testing laboratory. Genetic counseling may also be recommended before and after the test to provide individuals with information about the implications of the test results and the condition itself.

SKU: TEST-2644 Category:

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