MCEE Gene Methylmalonyl-CoA epimerase deficiency Genetic Test
At DNA Labs UAE, we offer the MCEE Gene Methylmalonyl-CoA epimerase deficiency Genetic Test to help diagnose and identify mutations or variations in the MCEE gene. This test is essential for individuals who exhibit symptoms of methylmalonyl-CoA epimerase deficiency or have a family history of the disorder.
Test Details
The MCEE gene methylmalonyl-CoA epimerase deficiency NGS genetic test is a diagnostic test that uses Next-Generation Sequencing (NGS) technology to analyze the entire MCEE gene sequence. This gene is responsible for encoding the enzyme methylmalonyl-CoA epimerase, which plays a crucial role in the breakdown of certain amino acids and fatty acids.
Methylmalonyl-CoA epimerase deficiency is a rare genetic disorder that affects the body’s ability to process certain amino acids and fatty acids properly. It can lead to the accumulation of toxic substances in the body, causing various symptoms such as developmental delays, intellectual disability, seizures, and metabolic acidosis.
The MCEE Gene Methylmalonyl-CoA epimerase deficiency Genetic Test is performed using a blood sample or extracted DNA. Alternatively, one drop of blood can be collected on an FTA card. The test results are typically delivered within 3 to 4 weeks.
Test Cost
The cost of the MCEE Gene Methylmalonyl-CoA epimerase deficiency Genetic Test is AED 4400.0.
Doctor and Test Department
This test is ordered by a General Physician and is performed in our Genetics department.
Pre Test Information
Prior to the test, it is important to provide the patient’s clinical history. Additionally, a Genetic Counselling session may be conducted to draw a pedigree chart of family members affected with Methylmalonyl-CoA epimerase deficiency.
Interpreting the Test Results
The results of the MCEE Gene Methylmalonyl-CoA epimerase deficiency Genetic Test should be interpreted by a qualified geneticist or genetic counselor. It is important to consider the individual’s clinical symptoms and other diagnostic tests to make an accurate diagnosis.
At DNA Labs UAE, we are dedicated to providing accurate and personalized genetic testing services. Contact us today to learn more about the MCEE Gene Methylmalonyl-CoA epimerase deficiency Genetic Test and how it can help in the diagnosis and treatment of this rare genetic disorder.
| Test Name | MCEE Gene Methylmalonyl-CoA epimerase 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 MCEE Gene Methylmalonyl-CoA epimerase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylmalonyl-CoA epimerase deficiency |
| Test Details |
MCEE gene methylmalonyl-CoA epimerase deficiency NGS genetic test is a diagnostic test used to detect mutations or variations in the MCEE gene. This gene is responsible for encoding the enzyme methylmalonyl-CoA epimerase, which plays a crucial role in the breakdown of certain amino acids and fatty acids. Methylmalonyl-CoA epimerase deficiency is a rare genetic disorder that affects the body’s ability to process certain amino acids and fatty acids properly. It can lead to the accumulation of toxic substances in the body, causing various symptoms such as developmental delays, intellectual disability, seizures, and metabolic acidosis. The NGS (Next-Generation Sequencing) genetic test is a highly advanced and accurate method used to analyze the entire MCEE gene sequence. It can identify any mutations, deletions, or insertions in the gene that may be responsible for the deficiency. This genetic test is typically performed on individuals who exhibit symptoms of methylmalonyl-CoA epimerase deficiency or have a family history of the disorder. The results of the test can help healthcare professionals make an accurate diagnosis and develop a personalized treatment plan for the affected individual. It is important to note that this test may not be available in all healthcare facilities and should be performed by a qualified geneticist or genetic counselor. Additionally, the test results should be interpreted in conjunction with the individual’s clinical symptoms and other diagnostic tests to make an accurate diagnosis. |
