ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test
Genetic testing is an important tool in diagnosing and understanding rare genetic disorders. One such disorder is combined malonic and methylmalonic aciduria (CMAMMA), which is caused by mutations in the ACSF3 gene.
Test Details
The ACSF3 gene is responsible for encoding the enzyme acyl-CoA synthetase family member 3, which plays a role in fatty acid metabolism. Mutations in the ACSF3 gene can lead to CMAMMA, a rare genetic disorder characterized by the accumulation of malonic acid and methylmalonic acid in the body.
CMAMMA can cause a range of symptoms, including developmental delay, intellectual disability, seizures, failure to thrive, and metabolic acidosis. The severity of these symptoms can vary among affected individuals.
Test Method
The ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test is conducted using Next-Generation Sequencing (NGS) technology. NGS genetic testing allows for the simultaneous analysis of multiple genes, including the ACSF3 gene. This type of testing is highly accurate and can help identify mutations or variations in the ACSF3 gene that may be causing CMAMMA.
Test Components and Price
The cost of the ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test is AED 4400.0. The test requires a blood sample for analysis.
Report Delivery and Turnaround Time
Once the sample is received, the report will be delivered within 3 to 4 weeks. This timeframe allows for accurate analysis and interpretation of the genetic data.
Test Type and Department
The ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test falls under the category of Metabolic Disorders. It is conducted in the Genetics department of the laboratory.
Referring Doctor
The test can be ordered by a General Physician who suspects CMAMMA in a patient based on their clinical history.
Pre-Test Information
Prior to the test, it is recommended to have a Genetic Counselling session. This session helps in drawing a pedigree chart of family members affected with CMAMMA. This information can provide valuable insights into the inheritance pattern and help guide treatment decisions.
Importance of Genetic Testing
NGS genetic testing for CMAMMA or any other genetic disorder should always be performed and interpreted by healthcare professionals with expertise in genetics and genetic counseling. They can provide appropriate guidance and support to individuals and families undergoing genetic testing, ensuring accurate diagnosis, treatment decisions, and information on the likelihood of the condition being passed on to future generations.
Conclusion
The ACSF3 Gene Combined Malonic and Methylmalonic Aciduria Genetic Test is a valuable tool in diagnosing CMAMMA. It helps identify specific genetic mutations causing the disorder, guides treatment decisions, and provides information on inheritance patterns. Genetic testing should always be conducted under the guidance of healthcare professionals with expertise in genetics and genetic counseling.
| Test Name | ACSF3 Gene Combined malonic and methylmalonic aciduria 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 ACSF3 Gene Combined malonic and methylmalonic aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined malonic and methylmalonic aciduria |
| Test Details | The ACSF3 gene is responsible for encoding the enzyme acyl-CoA synthetase family member 3, which plays a role in fatty acid metabolism. Mutations in the ACSF3 gene can lead to a rare genetic disorder called combined malonic and methylmalonic aciduria (CMAMMA). CMAMMA is characterized by the accumulation of malonic acid and methylmalonic acid in the body. This can result in various symptoms including developmental delay, intellectual disability, seizures, failure to thrive, and metabolic acidosis. The severity of the symptoms can vary among affected individuals. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes, including the ACSF3 gene. This type of testing can help identify mutations or variations in the ACSF3 gene that may be causing CMAMMA. By identifying the specific genetic mutation causing CMAMMA, NGS genetic testing can provide a definitive diagnosis, help guide treatment decisions, and provide information on the likelihood of the condition being passed on to future generations. It can also be used for carrier testing in family members of affected individuals. It’s important to note that genetic testing should be performed and interpreted by healthcare professionals with expertise in genetics and genetic counseling. They can provide appropriate guidance and support to individuals and families undergoing genetic testing for CMAMMA or any other genetic disorder. |
