FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS) (N168)
About This Test
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 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.
At a Glance
Home Collection
Available
Report TAT
6 Days
Category
OUTSOURCE
Preparation / Prerequisite
4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Physician prescription is mandatory.
Test Parameters 1
View All 1 Parameters
- FRAGILE X TREMOR / ATAXIA SYNDROME (FXTAS)
Frequently Asked Questions
1. What Is outsourced test ?
Outsourced test are being done from Dr. Lal Path Lab. Charges and reporting time is same as of Dr. Lal Path Labs.
2. Any Preparation for the test ?
Physician prescription is mandatory.
3. Why this test is important ?
The FXTAS test detects premutation expansions (55–200 CGG repeats) in the FMR1 gene, which are associated with Fragile X–Associated Tremor/Ataxia Syndrome, a late-onset neurodegenerative disorder primarily affecting older adult carriers. This test is crucial for diagnosis, family risk assessment, and clinical management.
TAT Policy
The Turnaround Time (TAT) depends on the following factors:
- Registration date and time
- Type of scan or test
- Scan time or sample collection time
In uncommon circumstances, TAT may be delayed due to test complexity or reasons beyond our control. You will be informed of the estimated TAT at the time of registration.
