Retinoblastoma (RB1) Testing

Forms

*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
*All prenatal tests include MCC studies

Sample Requirements

  • 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 Instructions

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.

Shipping Address:
Genetic Diagnostic Laboratory
University of Pennsylvania
415 Anatomy–Chemistry Building
3620 Hamilton Walk
Philadelphia, PA 19104

Additional Information

OMIM

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