HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Genetic Test
Test Name: HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Test Details
HMGCL gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare genetic disorder that affects the metabolism of ketones and cholesterol in the body. It is caused by mutations in the HMGCL gene, which provides instructions for producing an enzyme called 3-hydroxy-3-methylglutaryl-CoA lyase. Deficiency in this enzyme leads to the buildup of harmful substances in the body, such as 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. This can result in a range of symptoms, including developmental delay, hypotonia (low muscle tone), seizures, vomiting, and failure to thrive.
NGS (Next-Generation Sequencing) genetic testing is a method used to identify mutations in the HMGCL gene. It involves sequencing the entire gene or specific regions of interest to detect any changes or abnormalities in the DNA sequence. This test can help confirm a diagnosis of HMGCL deficiency and guide treatment decisions.
Genetic testing for HMGCL deficiency can be beneficial for individuals who exhibit symptoms of the disorder or have a family history of the condition. It can provide a definitive diagnosis, enable genetic counseling, and inform treatment options. Additionally, early detection through genetic testing can lead to better management and improved outcomes for affected individuals.
| Test Name | HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase 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 HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
| Test Details | HMGCL gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare genetic disorder that affects the metabolism of ketones and cholesterol in the body. It is caused by mutations in the HMGCL gene, which provides instructions for producing an enzyme called 3-hydroxy-3-methylglutaryl-CoA lyase. Deficiency in this enzyme leads to the buildup of harmful substances in the body, such as 3-hydroxy-3-methylglutaric acid and 3-methylglutaconic acid. This can result in a range of symptoms, including developmental delay, hypotonia (low muscle tone), seizures, vomiting, and failure to thrive. NGS (Next-Generation Sequencing) genetic testing is a method used to identify mutations in the HMGCL gene. It involves sequencing the entire gene or specific regions of interest to detect any changes or abnormalities in the DNA sequence. This test can help confirm a diagnosis of HMGCL deficiency and guide treatment decisions. Genetic testing for HMGCL deficiency can be beneficial for individuals who exhibit symptoms of the disorder or have a family history of the condition. It can provide a definitive diagnosis, enable genetic counseling, and inform treatment options. Additionally, early detection through genetic testing can lead to better management and improved outcomes for affected individuals. |
