Home Genetic Tests Clinical Genomics Fragile-X Syndrome
Clinical · Rare Disease
TP-PCR · FMR1 Gene · CGG Repeats

Fragile-X Syndrome

#1 Inherited Cause of Intellectual Disability. Most Common Single-Gene Cause of Autism.

Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, affecting approximately 1 in 4,000 males and 1 in 8,000 females. Caused by an expanded CGG repeat in the FMR1 gene on the X chromosome, FXS disrupts production of the Fragile X Mental Retardation Protein (FMRP) — essential for brain development and synaptic function. This TP-PCR test accurately counts CGG repeats in the FMR1 gene to determine normal, premutation, or full mutation status — critical for diagnosis, fertility evaluation, IVF planning, and family risk assessment.

★★★★★
5.0 (Verified clinical test) NABL & CAP lab
Sample type
Blood (EDTA)
Turnaround
3 weeks
Gene analyzed
FMR1 (CGG repeats)
Technology
TP-PCR
Fragile X Syndrome FMR1 Gene Test
CGG repeat status — what your result means
<55
Normal
CGG repeats within normal range. No Fragile X risk. FMRP produced normally.
No increased risk
55–200
Premutation
Elevated CGG repeats. Carrier status — can expand to full mutation in next generation. Risk of FXTAS and FXPOI.
Carrier — monitor & plan
>200
Full Mutation
Gene silenced by methylation. FMRP absent — causes Fragile X Syndrome with intellectual disability and autism features.
Affected — FXS diagnosis
What you'll discover

CGG repeat count

Exact number of CGG repeats in the FMR1 gene — normal, premutation, or full mutation classification

FMR1 gene analysis

Intellectual disability risk

Full mutation confirms FXS diagnosis — the most common inherited cause of intellectual disability and autism

Diagnostic clarity

Fertility implications

Premutation in women associated with Fragile X Primary Ovarian Insufficiency (FXPOI) — early menopause risk

Fertility insight

Family planning risk

Premutation carriers risk passing expanded repeats to children — each generation can expand further

Generational risk

IVF / RPL evaluation

For couples with unexplained infertility or recurrent pregnancy loss — FXS can be an underlying genetic factor

IVF planning

FXTAS risk (males)

Premutation males are at risk for Fragile X Tremor/Ataxia Syndrome — a late-onset neurological disorder

Neurological risk
How it works
1

Order online

Place your order. Home collection kit ships within 24 hours — EDTA blood collection tube included.

2

Blood sample collection

3–4ml EDTA blood at home or at a nearby lab. Return using the prepaid courier label included in your kit.

3

TP-PCR analysis — FMR1 gene

Triple-Repeat Primed PCR (TP-PCR) accurately counts CGG repeats in the FMR1 gene — distinguishing normal, premutation, and full mutation in our NABL & CAP accredited lab.

4

Report + consultation

Detailed Fragile-X report in 3 weeks — CGG repeat count, mutation status classification, and personalized family planning and management guidance.

Sample report preview

Your Fragile-X Syndrome Report

A snapshot of your FMR1 gene CGG repeat analysis report

CGG Repeats
29
Normal range
Mutation Status
Normal
No FXS risk
FMRP Production
Normal
Protein produced
Child Risk
Low
No elevated risk
CGG repeat count
Normal / Pre / Full classification
FXPOI / FXTAS risk
Family transmission risk
Family planning guidance
Clinician-ready report
Frequently asked questions
Who should consider Fragile-X testing?
Testing is recommended for children or adults with unexplained intellectual disability, developmental delay, autism spectrum disorder, or behavioral difficulties; women with unexplained infertility, elevated FSH levels, premature ovarian insufficiency, or low ovarian reserve; couples with recurrent pregnancy loss; anyone with a family history of Fragile X Syndrome; relatives of a known premutation or full mutation carrier; and males over 50 with tremor and ataxia of unknown cause (possible FXTAS).
What is the difference between a premutation and a full mutation?
A premutation (55–200 CGG repeats) means the FMR1 gene is expanded but not silenced — carriers typically do not have Fragile X Syndrome itself, but are at risk for related conditions: women may develop Fragile X Primary Ovarian Insufficiency (FXPOI — early menopause) and men may develop Fragile X Tremor/Ataxia Syndrome (FXTAS — neurological symptoms in older age). Critically, premutation repeats can expand to a full mutation when passed to children. A full mutation (over 200 repeats) causes the FMR1 gene to be silenced by methylation, preventing FMRP production and causing Fragile X Syndrome.
Can a premutation expand to a full mutation in the next generation?
Yes — this is a key feature of Fragile X inheritance. When a woman with a premutation passes the FMR1 gene to her children, the CGG repeat count can expand during transmission. The larger the premutation repeat count in the mother, the higher the risk of expansion to a full mutation. This means a grandmother may have a premutation while her grandchild has a full mutation and Fragile X Syndrome — which is why testing and genetic counseling are so important for carrier families.
Why is Fragile X testing important for IVF?
Women with FMR1 premutations have an increased risk of premature ovarian insufficiency (POI), which can affect egg quality and quantity — making Fragile X testing important for IVF planning. Additionally, knowing carrier status allows couples to consider preimplantation genetic testing (PGT) to select unaffected embryos, preventing transmission of Fragile X to the next generation.
Is my data safe?
Yes. All data is protected under ISO 27001, HIPAA, and GDPR standards. Never shared with insurance companies, employers, or third parties without your consent. You retain full ownership of your genetic information.
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🧬 Clinical Genomics · Rare Disease
₹10,500
  • FMR1 gene CGG repeat count
  • Normal / Premutation / Full mutation
  • TP-PCR technology — gold standard
  • FXPOI & FXTAS risk assessment
  • NABL & CAP accredited lab
  • Family planning guidance included
Quantity
1
Secure checkout · SSL encrypted
Free pan-India shipping
Results in 3 weeks
Data never shared with insurers
NABL & CAP accredited
Genomic Expert Consultation — Available
After results, our Genomic Expert guides family planning, IVF options, and specialist referrals for FXPOI or FXTAS if needed.
Appointment link sent via email after order confirmation.
NABL & CAP

Accredited lab

TP-PCR

Gold-standard method

FMR1 Gene

CGG repeat analysis

ISO 27001

Data security

100% Private

GDPR compliant

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