Retinoblastoma (RB1) Testing
- Retinoblastoma Info Sheet
- Retinoblastoma Sample Requirements
- Retinoblastoma Sample Requirements – Prenatal
- Retinoblastoma Request Form – Proband (Child)
- Retinoblastoma Request Form – Proband (Adult)
- Retinoblastoma Request Form – Familial and Prenatal
*Please open the forms in Adobe Acrobat before printing.
Billing Information and Turnaround Time
|Name of Test||Turnaround Time||Cost||CPT Codes|
|Retinoblastoma: Full Sequencing of DNA from Frozen Tumor and/or Blood with automatic reflex to deletion/duplication analysis||8-10 weeks||$1,880||81405, 81407|
|Retinoblastoma: Full Sequencing of DNA from Paraffin-embedded Tumor and Blood with automatic reflex to deletion/duplication analysis||8-12 weeks||$1,990||88381, 81405, 81407|
|Retinoblastoma: Deletion/Duplication Analysis of DNA from blood||4-6 weeks||$560||81405|
|Retinoblastoma: Known Familial Mutation sequencing mutation or deletion/duplication||2-3 weeks||$360||81403 for known sequencing mutation or deletion/duplication of select exons <5; call for code for >5 exons of RB1|
|Retinoblastoma: Prenatal Diagnosis of Known Familial Mutation – sequencing mutation or deletion/duplication||7-10 days||$460*||81403, 81265 for known sequencing mutation and for deletion/duplication <5 exons; call for code for >5 exons|
|Retinoblastoma: MYCN analysis||2-3 weeks||$340||81402|
- We require 2 EDTA tubes (lavender top) of blood - approximately 4 mL per tube
- For a newborn sample, obtain 2 EDTA tube (lavender top) of blood - approximately 1-2 mL per tube
- Label each tube with the patient's name and date sample was obtained
- Send frozen tumor on dry ice.
- Our lab needs 5 x 20micron sections (scrolls) if cut paraffin tumor is sent. NOTE: paraffin tumor can yield an inconclusive result for RB due to the quality of DNA. Specifically, paraffin tumors that have been preserved with picric acid or mercury-containing reagents yield very poor quality DNA.
- If tumor is sent separately from blood sample, please include patient's name with the tumor sample.
- We accept banked or recently extracted DNA; please include the concentration.
Please see our prenatal section for information on prenatal requirements.
Shipping Sample: Ship at room temperature via Federal Express or other overnight courier that guarantees AM delivery to arrive Monday-Friday. There is no one in the laboratory evenings and weekends to receive samples. If sample is drawn on a Friday, please refrigerate it until shipment on the following business day.
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104