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ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test

Name: ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test
SKU: TEST-2484
Price: 4400 AED
Availability: InStock

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

-21%

The ACAD8 gene is associated with the production of isobutyryl-CoA dehydrogenase, an enzyme crucial for breaking down certain fats in the body. A deficiency in this enzyme, due to mutations in the ACAD8 gene, can lead to a rare metabolic disorder known as Isobutyryl-CoA Dehydrogenase (IBD) deficiency. This condition can present a variety of symptoms, ranging from mild to severe, including developmental delays, muscle weakness, and metabolic crises.

To diagnose this condition, a genetic test targeting the ACAD8 gene can be conducted. This test is designed to identify mutations in the ACAD8 gene that lead to IBD deficiency. It is a critical step in confirming the diagnosis, which can then guide treatment and management strategies for affected individuals.

In the UAE, this specific genetic test is available at DNA Labs UAE, a leading facility in genetic diagnostics. The cost of the ACAD8 Gene Isobutyryl-CoA Dehydrogenase Deficiency Genetic Test is set at 4400 AED. This test is conducted with high precision and accuracy, offering vital information for patients and their families. Through this testing, individuals can gain a better understanding of their condition, enabling informed decisions about their health management and care.

Description

ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency Genetic Test

Test Name: ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency Genetic Test

Components: ACAD8 gene isobutyryl-CoA dehydrogenase deficiency NGS genetic test

Price: 4400.0 AED

Sample Condition: Blood

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 ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Isobutyryl-CoA dehydrogenase deficiency.

Test Details: ACAD8 gene isobutyryl-CoA dehydrogenase deficiency NGS genetic test is a type of genetic test that is used to detect mutations or variations in the ACAD8 gene. This gene encodes for the isobutyryl-CoA dehydrogenase enzyme, which is involved in the breakdown of isobutyryl-CoA, a molecule derived from the metabolism of certain amino acids. Isobutyryl-CoA dehydrogenase deficiency is a rare inherited metabolic disorder characterized by the inability to properly break down isobutyryl-CoA. This can lead to the buildup of toxic metabolites and cause a range of symptoms, including developmental delay, muscle weakness, seizures, and metabolic acidosis. The NGS (Next-Generation Sequencing) genetic test analyzes the DNA sequence of the ACAD8 gene to identify any mutations or variations that may be present. This test can help diagnose isobutyryl-CoA dehydrogenase deficiency and provide valuable information for genetic counseling and management of the condition. It is important to note that genetic testing should be conducted and interpreted by qualified healthcare professionals who specialize in genetics, as the results can have significant implications for individuals and their families.

Test Name	ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency Genetic Test
Components
Price	4400.0 AED
Sample Condition	Blood
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 ACAD8 Gene Isobutyryl-CoA dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Isobutyryl-CoA dehydrogenase deficiency
Test Details	ACAD8 gene isobutyryl-CoA dehydrogenase deficiency NGS genetic test is a type of genetic test that is used to detect mutations or variations in the ACAD8 gene. This gene encodes for the isobutyryl-CoA dehydrogenase enzyme, which is involved in the breakdown of isobutyryl-CoA, a molecule derived from the metabolism of certain amino acids. Isobutyryl-CoA dehydrogenase deficiency is a rare inherited metabolic disorder characterized by the inability to properly break down isobutyryl-CoA. This can lead to the buildup of toxic metabolites and cause a range of symptoms, including developmental delay, muscle weakness, seizures, and metabolic acidosis. The NGS (Next-Generation Sequencing) genetic test analyzes the DNA sequence of the ACAD8 gene to identify any mutations or variations that may be present. This test can help diagnose isobutyryl-CoA dehydrogenase deficiency and provide valuable information for genetic counseling and management of the condition. It is important to note that genetic testing should be conducted and interpreted by qualified healthcare professionals who specialize in genetics, as the results can have significant implications for individuals and their families.