Fragile-X Syndrome Genetic Test – Accurate Lab Screening for Inherited Conditions

Description

Fragile-X Syndrome Genetic Test – Accurate Lab Screening for Inherited Conditions

The Fragile-X Syndrome Genetic Test from Lab Tests Dubai is a high-precision molecular diagnostic test that analyzes the FMR1 gene on the X chromosome—the most common inherited cause of intellectual disability and autism spectrum disorder (ASD).

Fragile-X Syndrome (FXS) affects:

• 1 in 4,000 males
• 1 in 6,000 females
• And is linked to premature ovarian insufficiency (FXPOI) and FXTAS (Fragile-X-associated tremor/ataxia syndrome)in carriers

This test is essential for:

• Diagnosing unexplained developmental delays, speech delay, or learning disabilities
• Evaluating autism-like behaviors in children
• Assessing families with a history of intellectual disability or ASD
• Screening women with infertility or early menopause
• Supporting pre-conception and prenatal counseling

Using PCR and Southern Blot analysis, this blood-based test measures the number of CGG trinucleotide repeats in the FMR1 gene:

• Normal: 5–44 repeats
• Gray Zone: 45–54 repeats
• Premutation: 55–200 repeats (carrier state)
• Full Mutation: >200 repeats (Fragile-X Syndrome)

Available with home blood collection, Lab Tests Dubai ensures accurate, private, and stress-free testing—so families can get answers with dignity.

Why You Need This Test

If your child has autism, delayed speech, or behavioral challenges, or if you’ve faced unexplained infertility or early menopause, this test could reveal a genetic cause—so you can access early intervention, support, and informed family planning.

You need the Fragile-X Syndrome Test if:

• Your child has developmental delay, intellectual disability, or ASD
• There’s a family history of Fragile-X or undiagnosed learning issues
• You’re a woman with infertility, recurrent miscarriages, or early menopause
• You’re planning pregnancy and have a family history of FXS
• You’re a male with tremors, balance issues, or cognitive decline (possible FXTAS)

This test helps:

• Confirm or rule out Fragile-X Syndrome
• Identify premutation carriers (at risk for FXPOI/FXTAS)
• Guide early intervention (therapy, education, behavior support)
• Enable prenatal diagnosis (CVS/amniocentesis)
• Support reproductive decisions (IVF with PGT)

Early testing = better outcomes and empowered families.

Symptoms That Indicate This Test

Consider the Fragile-X Test if you or a loved one experience:

✅ In Children:

• Delayed speech or language development
• Intellectual disability or learning difficulties
• Autism-like behaviors (poor eye contact, hand-flapping, sensory sensitivity)
• Hyperactivity, anxiety, or social anxiety
• Physical features (long face, large ears, flat feet, loose joints)

✅ In Women:

• Infertility or reduced ovarian reserve
• Premature menopause (before age 40)
• Recurrent miscarriages

✅ In Adults (Carriers):

• Tremors, balance problems, memory decline (FXTAS)
• Mood disorders or anxiety

These signs may point to FMR1 gene mutation—and this test helps start the right care.

Natural Production: How the FMR1 Gene Mutation Causes Disease

The FMR1 gene produces FMRP (Fragile-X Mental Retardation Protein), essential for brain development and synaptic function.

In Fragile-X Syndrome:

• A CGG trinucleotide repeat expansion (>200 repeats) in the FMR1 gene causes methylation and gene silencing
• FMRP is not produced
• This disrupts neural connections, leading to intellectual and behavioral challenges

Inheritance Pattern:

• X-linked – males are more severely affected
• Premutation carriers (55–200 repeats) can pass an expanded full mutation to children
• Anticipation: The mutation can expand in future generations

This test detects both full mutations (FXS) and premutations (carrier state), enabling lifelong risk assessment.

What Happens If Untreated? Risks of Ignoring Fragile-X

Ignoring Fragile-X can lead to:

⚠️ Missed Early Intervention – delayed speech, behavior, and learning support
⚠️ Unexplained Infertility or Early Menopause in female carriers
⚠️ Late Diagnosis of FXTAS – progressive neurological decline in older adults
⚠️ Unplanned Transmission – risk of having a child with severe FXS
⚠️ Emotional Burden – families searching for answers

The good news? Early diagnosis changes lives with:

• Early behavioral, speech, and occupational therapy
• Educational support plans
• Genetic counseling for family planning
• Monitoring for FXPOI and FXTAS in carriers

Early testing = empowerment, not just diagnosis.

How to Prepare for the Test

To ensure accurate results:

✅ No fasting required
✅ Continue your regular medications
✅ Inform your doctor of:

• Family history of developmental delay or infertility
• Child’s developmental milestones
• Reproductive history (for women)

An EDTA whole blood sample is collected via standard draw—available at our labs or via home collection.

Test Overview: PCR & Southern Blot Methodology

Report Includes:

• CGG Repeat Count (e.g., 45, 90, 250)
• Classification: Normal, Gray Zone, Premutation, Full Mutation
• Methylation Status (if full mutation)
• Clinical Interpretation & Genetic Counseling Recommendations

Note: This is the gold standard for Fragile-X diagnosis.

Benefits of the Fragile-X Syndrome Genetic Test

🔹 End the Diagnostic Odyssey
Get answers for developmental delays.

🔹 Empower Family Planning
Know your carrier status before pregnancy.

🔹 Enable Early Intervention
Start therapies early for better outcomes.

🔹 Identify Adult-Onset Risks
Detect FXTAS and FXPOI in carriers.

🔹 Peace of Mind
Know your genetic status and risks.

If you’re concerned about autism, learning delays, or infertility, the Fragile-X Syndrome Genetic Testgives you the answers you need in 30 days.