Retinoblastoma (RB1) Testing

Forms

*Please open the forms in Adobe Acrobat before printing.


Billing Information and Turnaround Time

*Reflex testing options: Maximum cost is listed, although our lab only bills for the services performed. Final charge may be less than listed price, but cannot be determined until the testing has been completed.

Name of Test Turnaround Time Cost CPT Codes
Retinoblastoma: Frozen Tumor and/or BloodSequencing with reflex to deletion/duplication 8-10 weeks $2,070* 81479x2
Retinoblastoma: Paraffin-embedded Tumor and Blood Sequencing with reflex to deletion/duplication 8-12 weeks $2,180* 81479x2, 88381
Retinoblastoma: Deletion/duplication (blood) 4-6 weeks $750 81479
Retinoblastoma: 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: Familial Mutation (Prenatal) 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 $360 81402
Retinoblastoma: Methylation only (tumor &/or blood) 2-3 weeks $400 81401x2
*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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