Fragile X FMR1 Mutation Screen Test sale cost 1600 AED
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Fragile X FMR1 Mutation Screen Test Cost

Original price was: 2,170 د.إ.Current price is: 1,600 د.إ.

-26%

The Fragile X FMR1 Mutation Screen Test is a specialized genetic test designed to detect mutations in the FMR1 gene, which is associated with Fragile X syndrome. This condition is a genetic disorder that causes a range of developmental problems including learning disabilities and cognitive impairment. The test is crucial for individuals with a family history of Fragile X syndrome or for those showing symptoms of the disorder. By analyzing a sample of DNA, usually obtained from a blood draw, this test can identify variations in the CGG triplet repeat in the FMR1 gene that are indicative of Fragile X syndrome.

At DNA Labs UAE, this comprehensive testing service is offered for 1600 AED. The laboratory employs state-of-the-art genetic testing technologies to ensure accurate and reliable results. Conducting the test in a controlled environment under the supervision of experienced geneticists and technicians guarantees the highest standard of diagnostic precision. This test not only aids in the diagnosis of Fragile X syndrome but also plays a pivotal role in guiding the management and treatment of individuals affected by the condition. Furthermore, it can provide essential information for families considering their future reproductive options.

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FRAGILE X FMR1 MUTATION SCREEN Test

At DNA Labs UAE, we offer the FRAGILE X FMR1 MUTATION SCREEN Test, a genetic test that detects mutations in the FMR1 gene associated with Fragile X syndrome. Fragile X syndrome is a genetic disorder characterized by intellectual disability, behavioral and learning challenges, and physical characteristics such as a long face and large ears.

Test Details

The FRAGILE X (FMR1) MUTATION SCREEN test analyzes a blood or saliva sample to determine the number of CGG repeats in the FMR1 gene. In individuals without Fragile X syndrome, this repeat sequence is usually less than 40 copies. However, in individuals with Fragile X syndrome, the repeat sequence is expanded to over 200 copies, which can cause the gene to not function properly.

The test can identify individuals with a normal number of repeats (55-200 repeats), known as the normal or premutation range, or individuals with an expanded number of repeats (>200 repeats), known as a full mutation. It is important to note that individuals with a premutation may not exhibit symptoms of Fragile X syndrome themselves, but they can pass the expanded repeat to their children, increasing the risk of their children developing the syndrome.

Test Cost and Components

The FRAGILE X FMR1 MUTATION SCREEN Test costs 1600.0 AED. The test requires a sample of 4 mL (2 mL minimum) whole blood collected in 1 Lavender top (EDTA) tube. The sample should be shipped refrigerated and should not be frozen. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Report Delivery and Turnaround Time

The sample should be received by 11 am for testing. The report will be delivered within 15 working days.

Method and Test Type

The FRAGILE X (FMR1) MUTATION SCREEN Test is performed using the PCR method. It falls under the category of Genetic Disorders tests.

Referring Doctor and Test Department

The test is usually referred by a Pediatrician. It is conducted in the MOLECULAR DIAGNOSTICS department.

Pre Test Information

A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before undergoing the FRAGILE X FMR1 MUTATION SCREEN Test.

Diagnostic and Carrier Testing

The FRAGILE X FMR1 MUTATION SCREEN Test can be used for diagnostic purposes in individuals suspected of having Fragile X syndrome. It can also be used for carrier testing in individuals with a family history of the condition. Additionally, the test can be utilized for prenatal testing to determine if a fetus is at risk for Fragile X syndrome.

Genetic Counseling

Genetic counseling is often recommended before and after undergoing the FRAGILE X FMR1 MUTATION SCREEN Test. It allows individuals and families to discuss the implications of the test results and receive support and guidance.

Test Name FRAGILE X FMR1 MUTATION SCREEN Test
Components
Price 1600.0 AED
Sample Condition 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery SampleSat by 11 am;Report 15 Working days
Method PCR
Test type Genetic Disorders
Doctor Pediatrician
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

The FRAGILE X (FMR1) MUTATION SCREEN test is a genetic test that is used to detect mutations in the FMR1 gene, which is associated with Fragile X syndrome. Fragile X syndrome is a genetic disorder that causes intellectual disability, behavioral and learning challenges, and physical characteristics such as a long face and large ears.

The FMR1 gene contains a repeated sequence of DNA called CGG repeats. In individuals without Fragile X syndrome, this repeat sequence is usually less than 40 copies. However, in individuals with Fragile X syndrome, the repeat sequence is expanded to over 200 copies, which can cause the gene to not function properly.

The FRAGILE X (FMR1) MUTATION SCREEN test involves analyzing a blood or saliva sample to determine the number of CGG repeats in the FMR1 gene. This test can identify individuals who have a normal number of repeats, known as the normal or premutation range (55-200 repeats), or individuals who have an expanded number of repeats, known as a full mutation (>200 repeats).

It is important to note that individuals with a premutation may not have symptoms of Fragile X syndrome themselves, but they can pass the expanded repeat to their children, increasing the risk of their children developing Fragile X syndrome.

The FRAGILE X (FMR1) MUTATION SCREEN test can be used for diagnostic purposes in individuals suspected of having Fragile X syndrome or for carrier testing in individuals with a family history of the condition. It can also be used for prenatal testing to determine if a fetus is at risk for Fragile X syndrome.

Genetic counseling is often recommended before and after undergoing the FRAGILE X (FMR1) MUTATION SCREEN test to discuss the implications of the test results and to provide support and guidance to individuals and families.

SKU: TEST-5083 Category:

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