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

3 weeks

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

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