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Fragile X Genetic Testing
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General
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Clinical Use:
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Fragile-X (FGX) Testing is a molecular method that screens for a mutation in the repeat section of the promoter region of the FMR-1 gene. The mutations, an insertion of additional "CGG" repeats in a CGG repeat region, result in an expansion of the promoter region. The severity of disease is directly related to the size of this expansion.
FGX testing is most commonly offered as a diagnostic test to support symptomatic diagnosis of Fragile-X Syndrome, a disorder that clinically presents as mental retardation associated with dysmorphic features such as large ears, elongated face and macro-orchidism, as well as behavioural disturbances, including hyperactivity or autistic-like behaviour. FGX testing is occasionally used to diagnose Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), which is a late-onset condition characterized by symptoms such as tremor and ataxia. An expansion of the FMR-1 gene has also been associated with Premature Ovarian Failure, and the FGX Test is used in diagnosing this condition. |
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Availability:
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Samples are tested routinely during the testing laboratory's hours of operation.
Molecular Genetics reports are issued in hardcopy to requesting doctor only. |
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Aliases/Synonyms:
| FRAX, FRAXA, |
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Code:
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GFRAX |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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See container |
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Minimum Collection Volume:
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4mL |
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Collection Instructions:
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Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Store sample at room temperature.
Do not centrifuge sample. |
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Minimum Assay Volume:
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4mL |
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Stability:
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72 hours ambient; Indefinitely once extracted and frozen |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Molecular Genetics |
Diagnostic Genomics |
QEII Medical Centre |
6383 4243 |
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Last Updated : 24-06-2025 14:24 |