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HSD17B4 Gene D-Bifunctional Protein Deficiency Genetic Test Cost

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

-21%

The HSD17B4 gene encodes the enzyme D-bifunctional protein, which plays a crucial role in the breakdown of very long-chain fatty acids and certain other molecules in the body. Deficiency in this enzyme leads to a rare genetic disorder known as D-bifunctional protein deficiency. This condition can result in a wide range of symptoms, including developmental delay, seizures, and abnormalities in muscle tone and function. Early diagnosis is essential for managing symptoms and improving quality of life.

To diagnose this condition, a genetic test is available at DNA Labs UAE, which specifically looks for mutations in the HSD17B4 gene. This test is crucial for individuals showing symptoms of the disorder or for families with a history of D-bifunctional protein deficiency, as it can provide a definitive diagnosis.

The cost of the HSD17B4 gene D-bifunctional protein deficiency genetic test at DNA Labs UAE is 4400 AED. This price may reflect the complexity of the test, which involves analyzing the genetic material (DNA) for specific mutations that cause the disorder. It’s a valuable investment for families seeking answers about this rare condition, enabling them to make informed decisions about care and management.

Description

HSD17B4 Gene D-bifunctional protein deficiency Genetic Test

Components: HSD17B4 Gene D-bifunctional protein 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: Dysmorphology

Doctor: Pediatrics

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test gene HSD17B4

Test Details: The HSD17B4 gene is responsible for encoding the D-bifunctional protein (DBP), which plays a crucial role in fatty acid metabolism. Mutations in the HSD17B4 gene can lead to DBP deficiency, a rare genetic disorder characterized by impaired fatty acid oxidation. NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze multiple genes simultaneously. In the case of HSD17B4 gene testing, NGS can be used to identify mutations or variants within the gene that may be responsible for DBP deficiency. This type of testing can provide a comprehensive analysis of the entire gene, allowing for a more accurate diagnosis of the condition. NGS genetic testing for HSD17B4 gene mutations can be particularly useful in cases where there is clinical suspicion of DBP deficiency, but traditional genetic testing methods have not yielded conclusive results. By analyzing the entire gene, NGS can identify rare or novel mutations that may have been missed by other testing methods. Overall, NGS genetic testing for HSD17B4 gene mutations can provide valuable information for the diagnosis and management of DBP deficiency. It can help confirm the presence of mutations in the HSD17B4 gene, guide treatment decisions, and provide important information for genetic counseling.

Test Name	HSD17B4 Gene D-bifunctional 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	Dysmorphology
Doctor	Pediatrics
Test Department:	Genetics
Pre Test Information	Clinical History of Patient who is going for HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic DNA Test gene HSD17B4
Test Details	The HSD17B4 gene is responsible for encoding the D-bifunctional protein (DBP), which plays a crucial role in fatty acid metabolism. Mutations in the HSD17B4 gene can lead to DBP deficiency, a rare genetic disorder characterized by impaired fatty acid oxidation. NGS (Next-Generation Sequencing) genetic testing is a powerful tool used to analyze multiple genes simultaneously. In the case of HSD17B4 gene testing, NGS can be used to identify mutations or variants within the gene that may be responsible for DBP deficiency. This type of testing can provide a comprehensive analysis of the entire gene, allowing for a more accurate diagnosis of the condition. NGS genetic testing for HSD17B4 gene mutations can be particularly useful in cases where there is clinical suspicion of DBP deficiency, but traditional genetic testing methods have not yielded conclusive results. By analyzing the entire gene, NGS can identify rare or novel mutations that may have been missed by other testing methods. Overall, NGS genetic testing for HSD17B4 gene mutations can provide valuable information for the diagnosis and management of DBP deficiency. It can help confirm the presence of mutations in the HSD17B4 gene, guide treatment decisions, and provide important information for genetic counseling.