Retinoblastoma (RB1) Testing

Forms

* Please open the forms in Adobe Acrobat before printing.

** NOTICE: The GDL is temporarily (as of November 6th, 2020) unable to perform RB1 promoter methylation analysis.  Comprehensive tumor analysis will not include promoter methylation analysis until further notice.

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 TestTurnaround TimeCostCPT Codes
Retinoblastoma: Sequence analysis  with reflex to deletion/duplication [Blood]6-8 weeks$2,070*81479x2
Retinoblastoma: Frozen tumor comprehensive analysis  with reflex to site specific testing on constitutional DNA8-10 weeks$2,63081479x2, 81401, 81402
Retinoblastoma: Paraffin-embedded Tumor comprehensive analysis with reflex to site specific testing on constitutional DNA8-12 weeks$2,74081479x2, 81401, 81402, 88381
Retinoblastoma: Deletion/duplication (blood)4-6 weeks$75081479
Retinoblastoma: Site specific analysis (familial)2-3 weeks$36081403 for known sequencing mutation or deletion/duplication of select exons 5 exons of RB1
Retinoblastoma: Site specific analysis (familial) (Prenatal)7-10 days$46081403, 81265 for known sequencing mutation and for deletion/duplication 5 exons
Retinoblastoma: MYCN analysis2-3 weeks$36081402
Retinoblastoma: Methylation only (tumor &/or blood)2-3 weeks$40081401x2

*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
Room 560 Clinical Research Building
415 Curie Boulevard
Philadelphia, PA 19104

Additional Information

OMIM

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