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Fragile X Mutation & Chromosomal Array Profile
Blood
1 parameters
Report in 192Hrs
At Home
No Fasting Required
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Genetic test for Fragile X syndrome.
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- List of Tests
- Fragile X Mutation & Chromosomal Array Profile
Fragile X Mutation & Chromosomal Array Profile
- Why is it done?
- Comprehensive genetic screening to identify Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism spectrum disorder
- Detection of chromosomal abnormalities including deletions, duplications, and structural rearrangements that may cause developmental delays, intellectual disability, or multiple birth defects
- Evaluation of children with unexplained developmental delay, intellectual disability, behavioral problems, or autism spectrum disorder
- Carrier screening for women planning pregnancy, especially with family history of Fragile X or unexplained intellectual disability
- Investigation of recurrent pregnancy losses, infertility, or reproductive concerns in couples
- Diagnostic confirmation when clinical features suggest genetic causes of neurodevelopmental or chromosomal disorders
- Prenatal testing through cell-free fetal DNA or diagnostic testing in pregnancy to detect genetic abnormalities
- Normal Range
- Fragile X Mutation Analysis: Normal result = Negative for FMR1 gene expansion; <54 CGG repeats in the FMR1 gene is considered normal
- FMR1 Classification Ranges: Normal = <54 repeats; Gray zone/Intermediate = 54-200 repeats; Premutation = 55-200 repeats; Full mutation = >200 repeats
- Chromosomal Array (CMA): Normal result = No pathogenic copy number variations detected; 46 chromosomes with no significant deletions or duplications
- CMA Resolution: Typically detects abnormalities >1-5 kilobases (kb) depending on platform; reports clinically significant pathogenic, likely pathogenic, or uncertain significance variants
- Results Classification: Negative = No pathogenic findings; Positive = Pathogenic or likely pathogenic variants identified; Uncertain significance = Variants requiring further interpretation
- Interpretation
- Negative Fragile X Result: Indicates absence of FMR1 gene expansion; no increased risk for Fragile X syndrome; rules out major cause of inherited intellectual disability
- Premutation Result (55-200 repeats): Indicates carrier status; individual may have mild symptoms including tremor, ataxia, or premature ovarian insufficiency; significant risk of expansion in offspring
- Full Mutation Result (>200 repeats): Indicates Fragile X syndrome; male individuals typically have severe intellectual disability, behavioral issues, seizures, and distinctive physical features
- Full Mutation in Females: Severity ranges from mild to severe due to X-inactivation patterns; presents with developmental delay, learning difficulties, or behavioral problems
- Gray Zone/Intermediate Results (54-200 repeats): May show borderline expansion requiring repeat testing; intermediate risk of instability; genetic counseling recommended
- Chromosomal Array - Pathogenic Deletion: Indicates loss of genetic material; severity depends on size and location; may cause developmental delay, intellectual disability, dysmorphic features, or organ involvement
- Chromosomal Array - Pathogenic Duplication: Indicates gain of genetic material; may cause developmental delay, intellectual disability, autism spectrum features, or other neurodevelopmental conditions
- Chromosomal Array - Uncertain Significance: Variants of unknown clinical significance require additional analysis, parental testing, or literature review; repeat testing may be recommended
- Factors Affecting Results: Age of individual, tissue type sampled, mosaicism (some cells may differ from others), de novo vs inherited mutations, ethnic background variations
- Associated Organs
- Central Nervous System (Brain): Primary site affected in Fragile X syndrome; results in intellectual disability, learning disorders, developmental delay, and autism spectrum features; FMR1 gene critical for neuronal development and synaptic plasticity
- Behavioral and Psychiatric Systems: Associated with attention deficit hyperactivity disorder (ADHD), anxiety disorders, behavioral problems, aggressive behaviors, and social difficulties
- Reproductive System (in Premutation Carriers): Females may develop premature ovarian insufficiency (POI) with reduced fertility and early menopause; males may have reduced sperm production
- Musculoskeletal System: Individuals with Fragile X may show hypotonia (low muscle tone), joint hypermobility, connective tissue abnormalities, or skeletal features including tall stature and macroorchidism
- Cardiovascular System: May show mitral valve prolapse or other cardiac abnormalities; screening recommended for individuals with Fragile X syndrome
- Sensory Systems: Vision problems including strabismus and nystagmus; hearing abnormalities; sensory processing difficulties common in Fragile X syndrome
- Multiple Organ Systems (for Chromosomal Abnormalities): Copy number variations detected by CMA can affect various organ systems depending on genes involved; may cause multi-system involvement
- Immune System: Some chromosomal abnormalities may affect immune function; increased susceptibility to infections in certain conditions
- Endocrine System: May be affected depending on chromosomal abnormalities identified; metabolic complications possible in certain conditions
- Follow-up Tests
- FMR1 Repeat Number Confirmation: PCR (Polymerase Chain Reaction) or Southern blot for definitive CGG repeat number quantification and methylation status assessment if full mutation suspected
- Genetic Counseling: Essential for positive results; provides information about inheritance patterns, recurrence risk, family planning options, and support resources
- Parental Testing: If child has pathogenic finding, parental testing recommended to determine inheritance pattern and identify carrier status in parents
- Developmental and Neuropsychological Evaluation: For individuals with positive results; comprehensive assessment of intellectual functioning, adaptive behavior, and developmental status
- Karyotyping: May be recommended if chromosomal rearrangements or structural abnormalities suspected beyond CMA resolution; useful for detecting balanced translocations
- FISH (Fluorescence In Situ Hybridization): May be performed to confirm or further characterize specific chromosomal abnormalities identified on CMA
- Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS): If diagnosis remains unclear; investigates point mutations and variants not detected by CMA
- Neuroimaging (MRI/CT): For individuals with developmental abnormalities or neurological symptoms; evaluates brain structure and identifies associated abnormalities
- EEG (Electroencephalogram): If seizures present or suspected in individuals with positive findings; evaluates seizure activity and brain electrical abnormalities
- Cardiovascular Screening: Echocardiogram recommended for Fragile X patients to assess for mitral valve prolapse and cardiac structural abnormalities
- Ophthalmologic Evaluation: For visual concerns; screening for strabismus, refractive errors, and other vision abnormalities common in Fragile X
- Audiologic Assessment: For hearing concerns; newborn screening follow-up and periodic hearing evaluations for developmental surveillance
- Family Screening: Siblings and relatives should be offered testing to identify additional carriers and affected individuals; enables early intervention
- Hormonal and Reproductive Testing: For carriers with premutation; FSH levels and ovarian reserve testing in women; may consider assisted reproduction options
- Ongoing Monitoring: Annual or biennial follow-up testing for premutation carriers; surveillance for development of fragile X-associated tremor/ataxia syndrome (FXTAS) or POI
- Fasting Required?
- Fasting: No - fasting is not required for Fragile X Mutation & Chromosomal Array Profile testing
- Sample Collection: Blood sample (2-5 mL) collected via venipuncture into EDTA tube (lavender top) or other appropriate tube as specified by laboratory
- Timing: Test can be performed at any time of day regardless of meals; no special timing required
- Medications: No medications need to be avoided for this test; continue all regular medications as prescribed
- Dietary Restrictions: No dietary restrictions necessary prior to testing; patient may eat and drink normally
- Patient Preparation: No special preparation required; avoid excessive physical activity immediately before blood draw if possible
- Infants and Young Children: Sample can be collected via heel prick for newborn screening or standard venipuncture for older children; no fasting required
- Prenatal Testing: For prenatal testing, fasting not required; sample obtained via amniocentesis, chorionic villus sampling (CVS), or non-invasive prenatal testing (NIPT)
- Sample Handling: Store sample at room temperature until processing; maintain chain of custody; most laboratories require processing within 7-14 days depending on method
- Turnaround Time: Results typically available within 2-4 weeks; prenatal results may be available in 1-2 weeks depending on urgency and method
How our test process works!
