Fragile X Syndrome FMR1 Detection by PCR Test
Cost: 1500.0 AED
Symptoms and Diagnosis
Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene. This mutation leads to a reduced production of a protein called FMRP, which is crucial for normal brain development.
PCR (Polymerase Chain Reaction) is a technique used to amplify specific regions of DNA. In the case of Fragile X Syndrome, PCR can be used to detect the presence of the mutation in the FMR1 gene. The PCR-based method used for Fragile X Syndrome detection is called the Fragile X PCR test.
The Fragile X PCR test involves the following steps:
- DNA Extraction: DNA is extracted from a sample, usually blood or saliva, collected from the individual being tested.
- PCR Amplification: Specific primers are designed to target the region of the FMR1 gene that contains the mutation. The PCR reaction mixture is prepared, which includes the extracted DNA, the primers, and DNA polymerase enzyme. The reaction mixture is subjected to a series of temperature cycles that allow the DNA to denature, anneal with the primers, and then be amplified by the DNA polymerase enzyme.
- Gel Electrophoresis: After PCR amplification, the products are separated by gel electrophoresis. Gel electrophoresis is a technique that uses an electric field to separate DNA fragments based on their size. The gel is stained with a dye that binds to DNA, allowing the visualization of the amplified fragments.
- Analysis: The gel is examined under UV light, and the presence or absence of the Fragile X mutation is determined by comparing the size of the amplified fragments with known controls. Individuals with the mutation will show an abnormal pattern of DNA bands, indicating the presence of the mutation.
Test Details
The Fragile X PCR test is a reliable and widely used method for detecting Fragile X Syndrome. It allows for the identification of individuals with the mutation, enabling early diagnosis and appropriate management of the disorder.
Pre Test Information
Fragile X Syndrome (FMR1) detection by PCR can be done with a doctor’s prescription. However, the prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Test Department
Genetics
Doctor
General Physician
Sample Condition
Peripheral blood
Report Delivery
3-4 days
Components
EDTA Vacutainer (2ml)
Price
1500.0 AED
Test Name | Fragile X Syndrome FMR1 detection by PCR Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 1500.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 3-4 days |
Method | End Point PCR |
Test type | Genetics |
Doctor | General Physician |
Test Department: | |
Pre Test Information | Fragile X Syndrome (FMR1) detection by PCR can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
Fragile X Syndrome (FXS) is a genetic disorder caused by a mutation in the FMR1 gene. The mutation leads to a reduced production of a protein called FMRP, which is important for normal brain development. PCR (Polymerase Chain Reaction) is a technique used to amplify specific regions of DNA. In the case of Fragile X Syndrome, PCR can be used to detect the presence of the mutation in the FMR1 gene. The PCR-based method used for Fragile X Syndrome detection is called the Fragile X PCR test. It involves the following steps: 1. DNA Extraction: DNA is extracted from a sample, usually blood or saliva, collected from the individual being tested. 2. PCR Amplification: Specific primers are designed to target the region of the FMR1 gene that contains the mutation. These primers flank the mutation site. The PCR reaction mixture is prepared, which includes the extracted DNA, the primers, and DNA polymerase enzyme. The reaction mixture is subjected to a series of temperature cycles that allow the DNA to denature, anneal with the primers, and then be amplified by the DNA polymerase enzyme. 3. Gel Electrophoresis: After PCR amplification, the products are separated by gel electrophoresis. Gel electrophoresis is a technique that uses an electric field to separate DNA fragments based on their size. The gel is stained with a dye that binds to DNA, allowing the visualization of the amplified fragments. 4. Analysis: The gel is examined under UV light, and the presence or absence of the Fragile X mutation is determined by comparing the size of the amplified fragments with known controls. Individuals with the mutation will show an abnormal pattern of DNA bands, indicating the presence of the mutation. PCR-based detection of Fragile X Syndrome is a reliable and widely used method. It allows for the identification of individuals with the mutation, enabling early diagnosis and appropriate management of the disorder. |