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Fragile X Tremor Ataxia Syndrome FXTAS Test Cost

Original price was: 1,430 د.إ.Current price is: 1,290 د.إ.

-10%

Fragile X Tremor Ataxia Syndrome (FXTAS) is a genetic condition that primarily affects the nervous system, leading to symptoms such as tremors, problems with balance and coordination (ataxia), and cognitive impairments. FXTAS is linked to the FMR1 gene, which can carry a premutation causing the syndrome. Individuals, especially older adults, carrying this premutation may develop FXTAS, although not everyone with the premutation will be affected.

To diagnose FXTAS, a specific genetic test is conducted to identify the FMR1 premutation. In the UAE, this test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The test is crucial for individuals who have a family history of FXTAS or exhibit symptoms related to the syndrome. It involves collecting a DNA sample, typically through a blood draw, and analyzing it for the presence of the FMR1 premutation.

The cost of the FXTAS test at DNA Labs UAE is 1290 AED. This investment allows individuals and families to gain crucial information regarding their genetic health, potentially guiding medical treatment and management decisions. It’s also a step forward in understanding the risk for future generations, as the FMR1 premutation can be passed down to offspring.

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FRAGILE X TREMOR ATAXIA SYNDROME (FXTAS) Test

Test Name: FRAGILE X TREMOR ATAXIA SYNDROME (FXTAS) Test

Components: FMR1 CGG Repeats

Price: 1290.0 AED

Sample Condition: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Report Delivery: Sample Mon by 11 am : Report Fri

Method: PCR, Fragment Analysis

Test type: Neurologic Disorder

Doctor: Neurologist

Test Department: MOLECULAR DIAGNOSTICS

Pre Test Information: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Test Details

Fragile X Tremor/Ataxia Syndrome (FXTAS) is a genetic disorder that primarily affects older males who carry a premutation in the FMR1 gene. The premutation is a genetic variant of the FMR1 gene that is characterized by an expansion of a specific DNA sequence. FXTAS is characterized by progressive tremors, ataxia (loss of muscle coordination), cognitive decline, and other neurological symptoms.

To diagnose FXTAS, several tests may be conducted:

  1. Genetic testing: This is the primary test used to diagnose FXTAS. It involves analyzing the FMR1 gene to identify the presence of a premutation or a full mutation. A blood sample or a cheek swab is usually taken for genetic testing.
  2. Fragile X DNA test: This test specifically looks for the expansion of the CGG repeat sequence in the FMR1 gene. A larger number of CGG repeats indicates a premutation or full mutation.
  3. Family history and clinical evaluation: The doctor will inquire about the patient’s family history of Fragile X syndrome or related disorders. A thorough clinical evaluation will also be conducted to assess the presence of symptoms associated with FXTAS, such as tremors, ataxia, cognitive decline, and psychiatric symptoms.
  4. Neurological examination: A neurological examination will be performed to assess motor skills, coordination, reflexes, and other neurological functions.
  5. Magnetic Resonance Imaging (MRI) scan: An MRI scan may be recommended to evaluate brain structure and detect any characteristic findings associated with FXTAS, such as white matter lesions or brain atrophy.

It is important to note that FXTAS can have overlapping symptoms with other neurodegenerative disorders, so a comprehensive evaluation is necessary to make an accurate diagnosis. A team of healthcare professionals, including geneticists, neurologists, and genetic counselors, may be involved in the diagnostic process.

Test Name FRAGILE X TREMOR ATAXIA SYNDROME FXTAS Test
Components *FMR1 CGG Repeats
Price 1290.0 AED
Sample Condition 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery Sample Mon by 11 am : Report Fri
Method PCR, Fragment Analysis
Test type Neurologic Disorder
Doctor Neurologist
Test Department: MOLECULAR DIAGNOSTICS
Pre Test Information Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details

Fragile X Tremor/Ataxia Syndrome (FXTAS) is a genetic disorder that primarily affects older males who carry a premutation in the FMR1 gene. The premutation is a genetic variant of the FMR1 gene that is characterized by an expansion of a specific DNA sequence. FXTAS is characterized by progressive tremors, ataxia (loss of muscle coordination), cognitive decline, and other neurological symptoms.

To diagnose FXTAS, several tests may be conducted:

1. Genetic testing: This is the primary test used to diagnose FXTAS. It involves analyzing the FMR1 gene to identify the presence of a premutation or a full mutation. A blood sample or a cheek swab is usually taken for genetic testing.

2. Fragile X DNA test: This test specifically looks for the expansion of the CGG repeat sequence in the FMR1 gene. A larger number of CGG repeats indicates a premutation or full mutation.

3. Family history and clinical evaluation: The doctor will inquire about the patient’s family history of Fragile X syndrome or related disorders. A thorough clinical evaluation will also be conducted to assess the presence of symptoms associated with FXTAS, such as tremors, ataxia, cognitive decline, and psychiatric symptoms.

4. Neurological examination: A neurological examination will be performed to assess motor skills, coordination, reflexes, and other neurological functions.

5. Magnetic Resonance Imaging (MRI) scan: An MRI scan may be recommended to evaluate brain structure and detect any characteristic findings associated with FXTAS, such as white matter lesions or brain atrophy.

It is important to note that FXTAS can have overlapping symptoms with other neurodegenerative disorders, so a comprehensive evaluation is necessary to make an accurate diagnosis. A team of healthcare professionals, including geneticists, neurologists, and genetic counselors, may be involved in the diagnostic process.

SKU: TEST-5499 Category:

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