Fragile X (FMR1) Mutation Screen (N246)
About This Test
Mutations in the FMR1 gene cause fragile X syndrome. Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. This test is used to determine the number of time the CGG triplet is repeated to diagnose Fragile X syndrome.
At a Glance
Home Collection
Available
Report TAT
7 Days
Category
OUTSOURCE
Preparation / Prerequisite
4 mL (2 mL min.) Whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Parameters 1
View All 1 Parameters
- FRAGILE X (FMR1) MUTATION SCREEN
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 Fragile X (FMR1) mutation screen detects expansions or mutations in the FMR1 gene, which cause Fragile X syndrome (FXS)—the most common inherited cause of intellectual disability and autism spectrum disorders. Early detection is crucial for diagnosis, family counseling, and 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.
