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Test Catalog
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Rett Syndrome (MECP2) DNA Sequencing Test |
#142 |
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| Type of Disorder: |
X-linked 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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| Disease(s) tested for: |
Rett Syndrome |
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| Test Details |
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| Test Code: |
142 |
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| Profiles that contain this test: |
Complete Rett Syndrome Evaluation
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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. Please call Athena for details. |
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| Technical Information |
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| Utility: |
Detects mutations in exons 1-4 of the MECP2 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing |
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| Reference Value: |
No mutation detected |
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| Patents: |
6,709,817, 7,670,773 |
| CPT Coding |
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The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83898(6), 83904(6), 83909(6), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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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: |
7-14 days |
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