ACAT1 Gene Methylacetoacetic aciduria Genetic Test
At DNA Labs UAE, we offer the ACAT1 Gene Methylacetoacetic aciduria Genetic Test to help diagnose and manage this rare metabolic disorder. This test is designed to analyze the ACAT1 gene, which is responsible for encoding the enzyme acetyl-CoA acetyltransferase 1. Mutations in this gene can lead to methylacetoacetic aciduria, a condition characterized by the inability to break down ketone bodies.
Symptoms and Diagnosis
Methylacetoacetic aciduria can cause a range of symptoms, including developmental delay, intellectual disability, seizures, and metabolic acidosis. To diagnose this condition, our test utilizes Next-Generation Sequencing (NGS) technology, which allows for the identification of genetic variations in an individual’s DNA. By detecting mutations in the ACAT1 gene, we can confirm a diagnosis of methylacetoacetic aciduria.
Test Details
Our ACAT1 Gene Methylacetoacetic aciduria Genetic Test is performed using NGS technology. This advanced sequencing method enables us to analyze multiple genes simultaneously, providing a comprehensive evaluation of your genetic profile. The test requires a blood sample, which can be collected by a general physician.
Test Cost and Report Delivery
The cost of the ACAT1 Gene Methylacetoacetic aciduria Genetic Test is AED 4400.0. Once the sample is received, the report will be delivered within 3 to 4 weeks.
Pre-Test Information
Before undergoing the ACAT1 Gene Methylacetoacetic aciduria Genetic Test, it is important to provide a clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by Methylacetoacetic aciduria. This information helps us better understand the genetic context and guide the testing process.
Test Department and Doctor
The ACAT1 Gene Methylacetoacetic aciduria Genetic Test is conducted in our Genetics department. The test can be ordered by a General Physician who will oversee the process and interpret the results.
Don’t wait any longer. Get the answers you need with our ACAT1 Gene Methylacetoacetic aciduria Genetic Test. Contact DNA Labs UAE today to schedule your test.
| Test Name | ACAT1 Gene Methylacetoacetic 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 ACAT1 Gene Methylacetoacetic aciduria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Methylacetoacetic aciduria |
| Test Details |
The ACAT1 gene is responsible for encoding the enzyme acetyl-CoA acetyltransferase 1, which plays a crucial role in the breakdown of certain fats in the body. Mutations in the ACAT1 gene can lead to a rare metabolic disorder known as methylacetoacetic aciduria. Methylacetoacetic aciduria is an autosomal recessive disorder characterized by the inability to break down ketone bodies, specifically acetoacetic acid and beta-hydroxybutyric acid. This leads to the accumulation of these substances in the blood and urine, causing a variety of symptoms including developmental delay, intellectual disability, seizures, and metabolic acidosis. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. It allows for the identification of genetic variations, including mutations, in an individual’s DNA. In the context of methylacetoacetic aciduria, NGS genetic testing can be used to detect mutations in the ACAT1 gene, helping to confirm a diagnosis and guide treatment options. |
