FMR1 Gene Fragile X tremorataxia syndrome Genetic Test
Cost: AED 4400.0
Symptoms and Diagnosis
The FMR1 gene is located on the X chromosome and encodes for a protein called fragile X mental retardation protein (FMRP). Mutations in the FMR1 gene can lead to a variety of disorders, including fragile X syndrome, fragile X-associated primary ovarian insufficiency, and fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a late-onset neurodegenerative disorder that affects both men and women. It is characterized by tremors, ataxia (loss of coordination and balance), cognitive decline, and psychiatric symptoms.
Test Components and Price
- Test Name: FMR1 Gene Fragile X tremorataxia syndrome Genetic Test
- Price: AED 4400.0
- Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
A Clinical History of the patient who is going for FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic DNA Test is required. A Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with FMR1 Gene Fragile X tremor/ataxia syndrome.
Test Details
NGS (next-generation sequencing) genetic testing can be used to diagnose FXTAS by identifying the repeat expansion in the FMR1 gene. This type of testing can also identify carriers of the FMR1 mutation who may be at risk for developing FXTAS or other related disorders. Genetic counseling is recommended for individuals with a family history of FXTAS or other FMR1-related disorders, as well as for those who are considering genetic testing.
Test Name | FMR1 Gene Fragile X tremorataxia syndrome Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with FMR1 Gene Fragile X tremor/ataxia syndrome |
Test Details |
The FMR1 gene is located on the X chromosome and encodes for a protein called fragile X mental retardation protein (FMRP). Mutations in the FMR1 gene can lead to a variety of disorders, including fragile X syndrome, fragile X-associated primary ovarian insufficiency, and fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a late-onset neurodegenerative disorder that affects both men and women. It is characterized by tremors, ataxia (loss of coordination and balance), cognitive decline, and psychiatric symptoms. FXTAS is caused by a repeat expansion in the FMR1 gene, which leads to the accumulation of toxic RNA molecules that damage neurons in the brain. NGS (next-generation sequencing) genetic testing can be used to diagnose FXTAS by identifying the repeat expansion in the FMR1 gene. This type of testing can also identify carriers of the FMR1 mutation who may be at risk for developing FXTAS or other related disorders. Genetic counseling is recommended for individuals with a family history of FXTAS or other FMR1-related disorders, as well as for those who are considering genetic testing. |