MCCC1 Gene 3-Methylcrontonyl-CoA Carboxylase 1 Deficiency NGS Genetic DNA Test
Introduction
The MCCC1 Gene 3-Methylcrontonyl-CoA Carboxylase 1 Deficiency NGS Genetic DNA Test is a cutting-edge diagnostic tool used to identify mutations in the MCCC1 gene, which are responsible for a rare metabolic disorder. This test utilizes Next-Generation Sequencing (NGS) technology to provide accurate and comprehensive genetic information, allowing healthcare providers to make informed decisions regarding patient care.
What the Test Measures
This genetic test measures the presence of mutations in the MCCC1 gene that can lead to 3-methylcrontonyl-CoA carboxylase deficiency. This deficiency can result in various metabolic complications, making early detection crucial for effective management.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of metabolic disorders.
- Patients exhibiting symptoms such as developmental delays, metabolic crises, or unexplained neurological issues.
- Individuals undergoing genetic counseling to assess their risk of passing on genetic disorders.
Benefits of Taking the Test
Taking the MCCC1 Gene test offers several benefits:
- Early diagnosis of metabolic disorders can lead to timely interventions.
- Informed family planning decisions through understanding genetic risks.
- Personalized treatment plans based on genetic findings.
- Access to support resources for affected individuals and families.
Understanding Your Results
Results from the MCCC1 Gene test will be interpreted by qualified genetic counselors or healthcare providers. They will provide guidance on what the results mean for your health and any necessary follow-up actions. It is essential to have a clear understanding of your genetic health to make informed decisions.
Test Details
| Test Name | Price (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the MCCC1 Gene 3-Methylcrontonyl-CoA Carboxylase 1 Deficiency NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and any inquiries you may have.
Pre-Test Instructions
Before taking the test, patients are advised to:
- Provide a detailed clinical history.
- Attend a genetic counseling session to create a pedigree chart of family members affected by 3-methylcrontonyl-CoA carboxylase 1 deficiency.
Sample Type
The test can be performed using:
- Blood sample
- Extracted DNA
- One drop of blood on an FTA card
Turnaround Time
The expected turnaround time for results is approximately 3 to 4 weeks.
