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Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication
3005696
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Ordering Recommendation
Recommended test for individuals with a suspected diagnosis or family history of heritable retinoblastoma.
Mnemonic
RB1 NGS
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 3 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva; buccal brush or swab, FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report.
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
GENE TESTED: RB1* (NM_000321)
*One or more exons are not covered by sequencing and/or deletion/duplication analysis; see Additional Technical Information.
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
N/A
CPT Codes
81479
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3005700 | RB1 Specimen | 31208-2 |
| 3005702 | RB1 Interp | 21731-5 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- Glioma retinae
Hereditary Retinoblastoma (RB1) Sequencing and Deletion/Duplication
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