| Test code: | 847 |
| Type of disorder: | Short Stature |
| Disease(s) tested for: | Idiopathic Short Stature, Pituitary Disorders |
| Genes Included: |
SHOX, |
| Profiles that contain this test: | Growth Hormone Deficiency Evaluation |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects deletions and sequence variations in the SHOX gene
Typical Presentation: Height reduction of more than 2 standard deviations below average.
Indications for testing: Presence of reduced extremities-to-trunk ratio; presence of Madelung wrist deformity; family history of Leri-Weill dyschondrosteosis or of Madelung wrist deformity |
| Methodology: |
Multiplex Ligation-dependent Probe Amplification (MLPA), Sanger Sequencing
|
| Reference Range: | No deletions detected, no sequence variation detected. |
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.
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: |
Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: |
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-21 days |
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