ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency 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 ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Acyl-CoA medium-chain dehydrogenase deficiency.
Test Details
The ACADM gene, also known as acyl-CoA medium-chain dehydrogenase gene, is responsible for providing instructions to produce an enzyme called medium-chain acyl-CoA dehydrogenase (MCAD). This enzyme is involved in breaking down medium-chain fatty acids to produce energy.
Deficiency in the ACADM gene leads to a condition called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). MCADD is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective ACADM gene (one from each parent) to develop the condition.
NGS (Next-Generation Sequencing) genetic testing is a method used to analyze an individual’s DNA to identify any variations or mutations in specific genes, including the ACADM gene. This type of testing can detect various genetic disorders, including MCADD.
By identifying mutations in the ACADM gene, NGS genetic testing can help diagnose individuals with MCADD, allowing for early intervention and management of the condition. Treatment typically involves avoiding fasting and ensuring a proper diet to prevent metabolic crises and provide sufficient energy to the body.
It is important to note that NGS genetic testing should be conducted and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, to ensure accurate diagnosis and appropriate management of the condition.
| Test Name | ACADM Gene Acyl-CoA medium-chain 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 ACADM Gene Acyl-CoA medium-chain dehydrogenase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Acyl-CoA medium-chain dehydrogenase deficiency |
| Test Details |
ACADM gene, also known as acyl-CoA medium-chain dehydrogenase gene, is responsible for providing instructions to produce an enzyme called medium-chain acyl-CoA dehydrogenase (MCAD). This enzyme is involved in breaking down medium-chain fatty acids to produce energy. Deficiency in the ACADM gene leads to a condition called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). MCADD is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective ACADM gene (one from each parent) to develop the condition. NGS (Next-Generation Sequencing) genetic testing is a method used to analyze an individual’s DNA to identify any variations or mutations in specific genes, including the ACADM gene. This type of testing can detect various genetic disorders, including MCADD. By identifying mutations in the ACADM gene, NGS genetic testing can help diagnose individuals with MCADD, allowing for early intervention and management of the condition. Treatment typically involves avoiding fasting and ensuring a proper diet to prevent metabolic crises and provide sufficient energy to the body. It is important to note that NGS genetic testing should be conducted and interpreted by qualified healthcare professionals, such as geneticists or genetic counselors, to ensure accurate diagnosis and appropriate management of the condition. |
