Fragile X (FMR1) Mutation Screen (L)
3.400,00 د.إ
The Fragile X (FMR1) Mutation Screen (L) is a genetic test designed to detect mutations in the FMR1 gene, which are associated with Fragile X syndrome, a leading cause of inherited intellectual disability and autism. This screening identifies CGG repeat expansions, distinguishing between normal, premutation, and full mutation alleles. Key benefits include early detection for informed reproductive decisions, risk assessment for carriers, and guidance for personalized medical management. Utilizing advanced molecular techniques, the test ensures high accuracy and reliability. Ideal for individuals with a family history of Fragile X or unexplained developmental delays, this screening provides critical genetic insights for proactive healthcare planning.
Description
Fragile X (FMR1) Mutation Screen (L) – Early Detection for Lifelong Health
The Fragile X (FMR1) Mutation Screen (L) is a gold-standard molecular genetic test that detects CGG trinucleotide repeat expansions in the FMR1 (Fragile X Mental Retardation 1) gene — the leading inherited cause of intellectual disability, autism spectrum disorder (ASD), and developmental delays in children, as well as premature ovarian insufficiency (FXPOI) and FXTAS (Fragile X-associated tremor/ataxia syndrome) in adults.
Using a combination of PCR (Polymerase Chain Reaction) and Southern Blot analysis, this comprehensive test accurately classifies CGG repeats into:
- Normal: <45 repeats
- Intermediate (Gray Zone): 45–54 repeats
- Premutation: 55–200 repeats
- Full Mutation: >200 repeats (gene silencing → no FMRP protein)
Offered at Lab Tests Dubai with strict quality control and expert interpretation, this test supports early diagnosis, informed family planning, and timely intervention empowering individuals and families with life-changing insights.
Why You Need This Test
You need the FMR1 Mutation Screen if:
- Your child has developmental delay, autism, speech issues, or learning disabilities
- There’s a family history of Fragile X syndrome or unexplained intellectual disability
- You’re a woman experiencing early menopause or infertility (possible FXPOI)
- You’re an adult with tremors, balance problems, or cognitive decline (possible FXTAS)
- You’re planning pregnancy and want to assess carrier status
- A relative has been diagnosed with a premutation or full mutation
This test reveals hidden genetic risks so you can act before symptoms arise.
Symptoms That Indicate This Test
In children:
- Delayed speech or language development
- Social anxiety, ADHD-like behavior, or autism traits
- Learning difficulties or intellectual disability
- Repetitive behaviors or sensory sensitivities
In women:
- Infertility or menopause before age 40 (FXPOI)
- Family history of Fragile X-related conditions
In older adults (especially male carriers):
- Progressive tremors, poor coordination (FXTAS)
- Memory loss, mood changes, neuropathy
Even without symptoms, premutation carriers are at risk of passing on a full mutation to their children — especially during maternal transmission.
Natural Production (Clarification: FMR1 Gene & Protein)
The FMR1 gene naturally produces FMRP (Fragile X Mental Retardation Protein), essential for brain development and synaptic function. However, when the CGG segment expands abnormally, it can:
- Silence the gene (full mutation) → no FMRP produced
- Cause toxic RNA gain-of-function (premutation) → neurodegeneration (FXTAS) or ovarian dysfunction (FXPOI)
This test measures the number of CGG repeats and determines methylation status (for full mutations), providing definitive classification critical for diagnosis and counseling.
How to Prepare for the Test
Preparation is simple:
- No fasting required
- Continue regular medications
🔹 Sample Type:
- 4 mL whole blood in lavender-top (EDTA) tube
🔹 Shipping Requirements:
- Ship refrigerated (2–8°C) with cold packs
- Include completed Test Request Form (TRF) and clinical/family history
We offer home blood collection across Dubai & UAE, handled by certified phlebotomists.
Test Overview
Test Name | Fragile X (FMR1) Mutation Screen (L) |
Methodology | PCR + Southern Blot Analysis |
Target | CGG Repeat Expansion inFMR1Gene |
Sample Type | Whole Blood (EDTA) |
Turnaround Time (TAT) | 15–20 Days |
Price | AED 1,499.00 |
Result Includes | Repeat size, classification (normal/premutation/full), methylation status |
Best For | Developmental delay, autism, FXPOI, FXTAS, carrier screening |
Performed By | CAP-aligned Molecular Genetics Laboratory |
FAQs
Q: Can a premutation turn into a full mutation?
A: Yes — only in mothers. A premutation can expand to a full mutation when passed to offspring, especially if maternal repeat count is high.
Q: Should siblings be tested if one child is positive?
A: Yes. Siblings may also carry the mutation even if asymptomatic.
Q: Is this test only for males?
A: No. Females can be affected too — though often less severely due to second X chromosome.
Q: Do I need a doctor’s referral?
A: Recommended for insurance and follow-up care. We accept self-referrals for screening.
Q: Can prenatal testing be done?
A: Yes. Amniocentesis or CVS can test fetal DNA if mother is a known carrier.
Q: What is FXPOI and who’s at risk?
A: Fragile X Primary Ovarian Insufficiency affects ~20% of female premutation carriers, causing early menopause.
Q: Is my genetic data safe?
A: Absolutely. All results are confidential, encrypted, and shared only with authorized individuals.
Know Before It’s Too Late. Could your child’s delays or your fertility struggles be linked to Fragile X? The FMR1 Mutation Screen (L) gives you definitive answers, so you can access early therapies, protect future pregnancies, and understand your family’s health legacy. Book a test today.
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