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| Test code: | 860 |
| Type of disorder: | Bone Diseases |
| Disease(s) tested for: | Bone Fragility |
| Genes Included: | COL1A1, COL1A2, |
| Tests included: | COL1A1 (OI) DNA Sequencing Test COL1A2 (OI) DNA Sequencing Test |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of the genes COL1A1 and COL1A2. Typical Presentation: Non-traumatic fractures in infants or young children, family history of OI Indications for testing: One or more non-traumatic fractures in infants or young children, family history of OI |
| Methodology: | Sanger Sequencing |
| Reference Range: | 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.
| CPT: | 81408(2) |
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: | 14-28 days |
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