MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency is a rare genetic disorder caused by a deficiency in the enzyme 3-methylcrotonyl-CoA carboxylase 1 (MCC1). To diagnose this condition, a Next-Generation Sequencing (NGS) genetic test is performed. This test involves sequencing the MCCC1 gene to identify any genetic variations or mutations that may be causing the deficiency. The test can be conducted using a blood sample or extracted DNA, or even just one drop of blood on an FTA card. The cost of the test is AED 4400.0 and the report is delivered within 3 to 4 weeks.
Test Details
The MCCC1 gene is responsible for encoding the enzyme MCC1. Deficiency in this enzyme leads to 3-methylcrotonyl-CoA carboxylase 1 deficiency. The NGS genetic test is performed using high-throughput sequencing technology, which allows for the simultaneous analysis of multiple genes. This provides a comprehensive assessment of an individual’s genetic makeup. The test is classified as a metabolic disorders test and falls under the Genetics department.
Pre Test Information
Before undergoing the MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected with 3-methylcrotonyl-CoA carboxylase 1 deficiency. This information will assist in the interpretation of the test results and guide appropriate treatment and management strategies.
Doctor and Test Department
The MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency Genetic Test can be ordered by a General Physician. The test falls under the Genetics department.
It is important to note that genetic testing should always be performed by a qualified healthcare professional or genetic counselor. They have the expertise to interpret the results accurately and provide appropriate counseling and support.
| Test Name | MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 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 MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 3-methylcrontonyl-CoA carboxylase 1 deficiency |
| Test Details |
The MCCC1 gene is responsible for encoding the enzyme 3-methylcrotonyl-CoA carboxylase 1 (MCC1). Deficiency in this enzyme leads to a rare genetic disorder known as 3-methylcrotonyl-CoA carboxylase 1 deficiency. To diagnose this condition, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput sequencing technology that allows for the simultaneous analysis of multiple genes, providing a comprehensive assessment of an individual’s genetic makeup. In the case of MCCC1 deficiency, the NGS genetic test would involve sequencing the MCCC1 gene to identify any genetic variations or mutations that may be causing the deficiency. This information can help confirm the diagnosis and guide appropriate treatment and management strategies. It is important to note that genetic testing should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and support. |
