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Test Catalog
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Rett Syndrome (MECP2) Duplication/Deletion Analysis |
#148 |
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| Type of Disorder: |
Intellectual disability |
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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: |
148 |
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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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| Technical Information |
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| Utility: |
Detects deletions in the MECP2 gene. Note: Also detects MECP2 duplications in males. |
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| Methodology: |
Multiplex-Ligation Probe Amplification (MLPA) |
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| Reference Value: |
No deletions or duplications 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), 83900(1), 83901(14), 83909(1), 83912(1), 83914(16)
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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: |
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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