|
Test Catalog
|
|
Noonan Syndrome (PTPN11) Evaluation |
#846 |
|
| Typical Presentation: |
Symptoms include: Short stature, cryptorchidism in males, cranio-facial features, congenital heart defects, developmental delay |
|
| Indications for Testing: |
Suspicion or diagnosis of Noonan Syndrome on clinical grounds
Family History of Noonan Syndrome |
|
| Disease(s) tested for: |
Noonan Syndrome |
|
| Test Details |
|
| Test Code: |
846 |
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Technical Information |
|
| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of PTPN11 |
|
| Methodology: |
Polymerase Chain Reaction (PCR), DNA sequencing of entire protein coding region of gene |
|
| Reference Value: |
No mutation detected |
|
| CPT Code(s): |
83891(1), 83898(15), 83904(15), 83909(1), 83912(1) |
|
| Shipping Considerations |
|
| 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 |
|
| Storage Conditions: |
For short periods (until shipped) at 4°C |
|
| Shipping Conditions: |
Overnight at room temperature (specimen arrival must be less than 24 hrs after collection); ship Monday through Thursday only |
|
| Test Turnaround: |
21-28 days |
|
|
[back to top]
|
