HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency Genetic Test
At DNA Labs UAE, we offer the HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency Genetic Test to help diagnose and manage this rare genetic disorder. This test analyzes the HIBCH gene, which is responsible for encoding the enzyme 3-hydroxyisobutryl-CoA hydrolase.
Test Components and Price
The HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency Genetic Test is priced at 4400.0 AED. The test requires a blood sample, extracted DNA, or one drop of blood on an FTA Card.
Report Delivery and Method
After the sample is collected, the report will be delivered within 3 to 4 weeks. The test utilizes NGS (Next-Generation Sequencing) technology to analyze the DNA sequence.
Symptoms and Diagnosis
3-hydroxyisobutryl-CoA hydrolase deficiency is characterized by the accumulation of toxic metabolites in the body, which can cause damage to various organs, particularly the brain and muscles. NGS genetic testing can help diagnose this condition by identifying any pathogenic variants in the HIBCH gene.
Referring Doctor and Test Department
The referring doctor for this test is a General Physician. The test is conducted in the Genetics department at DNA Labs UAE.
Pre Test Information
Before undergoing the HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected by this genetic disorder.
Test Details
The HIBCH gene, also known as 3-hydroxyisobutryl-CoA hydrolase gene, is responsible for encoding the enzyme 3-hydroxyisobutryl-CoA hydrolase. This enzyme is involved in the breakdown of a molecule called isobutyryl-CoA, a byproduct of valine metabolism. Deficiency of the HIBCH gene can lead to 3-hydroxyisobutryl-CoA hydrolase deficiency, a rare genetic disorder.
NGS genetic testing is a method used to analyze an individual’s DNA sequence. It can detect genetic variations, including mutations or changes in the HIBCH gene. By identifying the specific genetic mutations causing the deficiency, NGS testing aids in confirming the diagnosis, assessing the risk of disease progression, guiding treatment decisions, and providing genetic counseling and family planning for individuals with a family history of the disorder.
It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for 3-hydroxyisobutryl-CoA hydrolase deficiency.
| Test Name | HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase 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 HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxyisobutryl-CoA hydrolase deficiency |
| Test Details |
HIBCH gene, also known as 3-hydroxyisobutryl-CoA hydrolase gene, is responsible for encoding the enzyme 3-hydroxyisobutryl-CoA hydrolase. This enzyme is involved in the breakdown of a molecule called isobutyryl-CoA, which is a byproduct of valine metabolism. Deficiency of the HIBCH gene can lead to a rare genetic disorder called 3-hydroxyisobutryl-CoA hydrolase deficiency. This condition is characterized by the accumulation of toxic metabolites, such as 3-hydroxyisobutyrate and 3-hydroxyisobutryl-CoA, in the body. These metabolites can cause damage to various organs, particularly the brain and muscles. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze an individual’s DNA sequence. It allows for the detection of genetic variations, including mutations or changes in the HIBCH gene. NGS testing can help diagnose 3-hydroxyisobutryl-CoA hydrolase deficiency by identifying any pathogenic variants in the HIBCH gene. By identifying the specific genetic mutations causing the deficiency, NGS testing can aid in confirming the diagnosis, assessing the risk of disease progression, and guiding treatment decisions. It can also help in genetic counseling and family planning for individuals with a family history of the disorder. It is important to consult with a healthcare professional or a genetic counselor to discuss the appropriateness and availability of NGS genetic testing for 3-hydroxyisobutryl-CoA hydrolase deficiency. |
