ACACA Gene Acetyl-CoA carboxylase deficiency Genetic Test
Components:
- Test Name: ACACA Gene Acetyl-CoA carboxylase deficiency Genetic Test
- Price: 3200.0 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 ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Acetyl-CoA carboxylase deficiency.
Test Details:
ACACA (Acetyl-CoA carboxylase alpha) is a gene that provides instructions for making an enzyme called acetyl-CoA carboxylase. This enzyme is involved in the production of fatty acids, which are essential for various cellular processes, including energy storage and membrane formation.
Acetyl-CoA carboxylase deficiency is a rare genetic disorder characterized by a deficiency or dysfunction of the acetyl-CoA carboxylase enzyme. This deficiency leads to impaired fatty acid synthesis and can result in various symptoms, including developmental delay, intellectual disability, seizures, low muscle tone, and failure to thrive.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be responsible for a particular disorder or condition. In the case of ACACA gene acetyl-CoA carboxylase deficiency, NGS genetic testing can be used to identify variations or mutations in the ACACA gene that may be causing the deficiency.
NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any variations or mutations. This type of testing can provide valuable information for diagnosis, prognosis, and treatment planning for individuals with acetyl-CoA carboxylase deficiency.
| Test Name | ACACA Gene Acetyl-CoA carboxylase deficiency Genetic Test |
|---|---|
| Components | |
| Price | 3200.0 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 ACACA Gene Acetyl-CoA carboxylase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Acetyl-CoA carboxylase deficiency |
| Test Details |
ACACA (Acetyl-CoA carboxylase alpha) is a gene that provides instructions for making an enzyme called acetyl-CoA carboxylase. This enzyme is involved in the production of fatty acids, which are essential for various cellular processes, including energy storage and membrane formation. Acetyl-CoA carboxylase deficiency is a rare genetic disorder characterized by a deficiency or dysfunction of the acetyl-CoA carboxylase enzyme. This deficiency leads to impaired fatty acid synthesis and can result in various symptoms, including developmental delay, intellectual disability, seizures, low muscle tone, and failure to thrive. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be responsible for a particular disorder or condition. In the case of ACACA gene acetyl-CoA carboxylase deficiency, NGS genetic testing can be used to identify variations or mutations in the ACACA gene that may be causing the deficiency. NGS genetic testing involves sequencing the DNA of an individual and comparing it to a reference genome to identify any variations or mutations. This type of testing can provide valuable information for diagnosis, prognosis, and treatment planning for individuals with acetyl-CoA carboxylase deficiency. |
