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Test Catalog
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Complete Rett Syndrome Evaluation |
#153 |
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| Type of Disorder: |
Mental Retardation |
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| Typical Presentation: |
Normal psychomotor development during the first 6-18 months followed by a period of rapid regression. The hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive stereotyped hand movements. |
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| Indications for Testing: |
Female with classic Rett Syndrome or ASD |
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| Disease(s) tested for: |
Rett Syndrome |
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| Test Details |
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| Test Code: |
153 |
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| Profile includes: |
Rett Syndrome (MECP2) DNA Sequencing Test , Rett Syndrome (MECP2) Duplication/Deletion Analysis
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects sequence variations and deletions in the MECP2 gene. Note: Also detects MECP2 duplications in males. |
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| Methodology: |
DNA Sequencing and Multiplex-Ligation Probe Amplification (MLPA) |
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| Reference Value: |
No sequence variation, duplication or deletion detected |
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| CPT Code(s): |
83891(1), 83896(14),
83898(4), 83900(1), 83901(12), 83904(6)
83914(14), 83909(2),
83912(1) |
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| Patents: |
6,709,817 and 7,670,773 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
14-21 days |
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