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Test Catalog
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| Type of Disorder: |
Mental Retardation |
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| Typical Presentation: |
Idiopathic mental retardation |
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| Disease(s) tested for: |
Fragile X mental retardation, FXTAS |
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| Test Details |
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| Test Code: |
104 |
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Prenatal testing is available for this test. Please call Athena for details. |
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| Technical Information |
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| Utility: |
Detects the presence of a trinucleotide repeat sequence mutation in the Fragile-X gene, FMR-1, and identifies affected males and females, as well as transmitting males and female carriers of the mutation |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
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| Reference Value: |
Normal: 6-39 CGG trinucleotide repeats |
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| CPT Code(s): |
83891(1), 83892(2), 83894(1), 83896(1), 83897(1), 83898(1), 83909(1), 83912(1) |
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| Patents: |
5,658,764 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Room temperature |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only. |
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| Test Turnaround: |
14-21 days |
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