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Test Catalog
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia |
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| Disease(s) tested for: |
Myotonic dystrophy, Type 2 |
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| Test Details |
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| Test Code: |
110 |
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| Profiles that contain this test: |
Complete Myotonia Evaluation, Complete Myotonic Dystrophy Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete Myotonic Dystrophy Evaluation, #126. |
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| Technical Information |
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| Utility: |
Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
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| Reference Value: |
Normal: Less than 177 base pairs |
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| Patents: |
6,902,896, 7,442,782 |
| 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(1), 83909(1), 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: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Room temperature, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
21-28 days |
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