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Test Catalog
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Noonan Syndrome (PTPN11) Evaluation |
#846 |
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| Typical Presentation: |
Symptoms include: Short stature, cryptorchidism in males, cranio-facial features, congenital heart defects, developmental delay |
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| Indications for Testing: |
Suspicion or diagnosis of Noonan Syndrome on clinical grounds
Family History of Noonan Syndrome |
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| Disease(s) tested for: |
Noonan Syndrome |
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| Test Details |
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| Test Code: |
846 |
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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 mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of PTPN11 |
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| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene |
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| Reference Value: |
No mutation detected |
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| Patents: |
7,335,469 |
| 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(15), 83904(15), 83909(15), 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: |
10 mL (pediatric minimum: 2 mL) |
| Collection Tube: |
Yellow or lavender top |
| Stability: |
Hemolysis may compromise DNA recovery and integrity after 48 hrs |
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| Storage Conditions: |
For short periods (until shipped) at 4°C |
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| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
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| Test Turnaround: |
2 - 8 weeks |
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