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Test Catalog
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ARX DNA Sequencing Test |
#141 |
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| Type of Disorder: |
Mental Retardation |
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| Typical Presentation: |
Non-specific and syndromic mental retardation, symptoms may include infantile spasms |
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| Disease(s) tested for: |
Non-specific X-linked mental retardation (MRX), X-linked infantile spasms syndrome (ISSX), West syndrome (WS), X-linked myoclonic epilepsy with spasticity and severe intellectual disability (XMESID), Partington syndrome (PRTS), X-linked lissencephaly with abnormal genitalia (XLAG) |
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| Test Details |
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| Test Code: |
141 |
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
N/A |
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| Technical Information |
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| Utility: |
Identify affected individuals and carriers with a ARX (Aristaless-related homeobox) gene sequence abnormality |
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| Methodology: |
DNA Sequencing |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(6), 83904(6), 83909(1), 83912(1) |
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| Patents: |
N/A |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours, Monday - Thursday only. |
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| Test Turnaround: |
14-28 days |
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