Short Description

NGS genetic DNA test detecets for variant and mutation detection in FMR1 gene for Fragile X tremor/ataxia syndrome

PreTest 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

Detail Description

FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic DNA Test

Fragile X tremor/ataxia syndrome (FXTAS) is a genetic disorder that affects the nervous system. It is caused by a mutation in the FMR1 gene, which produces the fragile X mental retardation protein (FMRP). FXTAS primarily affects older men and is characterized by tremors, ataxia, cognitive decline, and other symptoms.

Symptoms of FXTAS

The symptoms of FXTAS usually appear in the sixth decade of life and include:

• Tremors
• Ataxia
• Cognitive decline
• Memory problems
• Behavioral changes
• Depression
• Anxiety

Diagnosis of FXTAS

FXTAS can be diagnosed through genetic testing. A DNA test can detect the FMR1 gene mutation that causes the disorder. A neurological exam and imaging tests may also be used to evaluate symptoms and rule out other conditions.

NGS Genetic DNA Test for FXTAS

Next-generation sequencing (NGS) is a powerful tool that can be used to analyze the entire DNA sequence of the FMR1 gene. This can provide a comprehensive picture of any mutations or variations that may be present. NGS can also identify other genetic factors that may contribute to the development of FXTAS.

Cost of FXTAS Genetic DNA Test

The cost of the FXTAS NGS genetic DNA test in India is INR 20,000. This includes the cost of sample collection, analysis, and interpretation of results.

Conclusion

FXTAS is a rare genetic disorder that can be difficult to diagnose. However, genetic testing can provide a definitive diagnosis and help patients and their families understand the underlying cause of their symptoms. NGS genetic DNA testing is a valuable tool for identifying FXTAS and other genetic disorders. DNA Labs India offers the FXTAS NGS genetic DNA test at an affordable cost, making it accessible to patients across India.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic DNA Test