Short Description

Fragile X tremor / ataxia syndrome (FXTAS) is caused by an expanded trinucleotide (CGG) repeat in 5ƒ??UTR of the Fragile Mental Retardation 1 gene (FMR1). This gene releases a product called fragile mental retardation protein (FMRP) which is responsible for the development of brain, neuronal maturation and synaptic responses in normal conditions. Clinical symptoms involved in fragile X syndrome are delayed crawling, walking or twisting, ataxia, hyperactive or impulsive behavior, cognitive decline, dementia, anxiety, speech and language delay, mental retardation, flat feet, flexible joints and low muscle tone. Some of these problems are present at birth or may develop during puberty.

PreTest Information

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

Detail Description

FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS) Test cost INR:8000 symptoms diagnosis

FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS) is a neurodegenerative disorder that affects people over 50 years old. It is caused by a mutation in the FMR1 gene on the X chromosome. FXTAS is more common in men than women.

Symptoms of FXTAS

The symptoms of FXTAS may vary from person to person. Some common symptoms include:

• Tremors
• Ataxia
• Balance problems
• Memory problems
• Depression and anxiety
• Parkinsonism

Diagnosis of FXTAS

The diagnosis of FXTAS is based on clinical symptoms and genetic testing. A blood test can be done to check for the FMR1 gene mutation. If the mutation is present, it can lead to the development of FXTAS.

Test Cost for FXTAS

The test cost for FXTAS may vary from lab to lab. At DNA Labs India, the FXTAS test cost is INR 8000. This includes the cost of the genetic test and the interpretation of the results by a genetic counsellor.

Conclusion

If you or someone you know is experiencing symptoms of FXTAS, getting tested for the FMR1 gene mutation is important. Early diagnosis and treatment can help improve the quality of life for those affected by FXTAS. At DNA Labs India, we offer affordable and reliable genetic testing services for FXTAS and other genetic disorders. Contact us today to learn more about our services.

Fragile X tremor/ataxia syndrome (FXTAS) is caused by an expanded trinucleotide (CGG) repeat in 5ƒ??UTR of the Fragile Mental Retardation 1 gene (FMR1). This gene releases a product called fragile mental retardation protein (FMRP) which is responsible for the development of the brain, neuronal maturation and synaptic responses in normal conditions. Clinical symptoms involved in Fragile X syndrome are delayed crawling, walking or twisting, ataxia, hyperactive or impulsive behaviour, cognitive decline, dementia, anxiety, speech and language delay, mental retardation, flat feet, flexible joints and low muscle tone. Some of these problems are present at birth or may develop during puberty.