FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS)

Additional information

Laboratory

Exult Diagnostics, Dr. Lal PathLabs

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FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS)

₹ 5500

EX0728      FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS)
Specimen: 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Stability:
Room Refrigerated Frozen
6 hrs 1 week NA
Method: PCR, Fragment Analysis
Comment: Samples received on holidays will be reported in the next schedule/next working day.
Report: Contact us to know the TAT.
Usage: Fragile X tremor/ataxia syndrome (FXTAS) is caused by an expanded trinucleotide (CGG) repeat in 5’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 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.
Doctor Specialty: Neurologist
Disease: Neurologic Disorder
Components: *FMR1 CGG Repeats
Courier Charges:
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: A duly filled Genomics Clinical Information Requisition Form is mandatory.

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