RB1 Gene Analysis Full Sequence, Bilateral
Label Mnemonic: RB1B
Epic Lab Code: LAB7505
Downtime Form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mail-out Laboratory
5231 RCP
Specimen Instructions:
Please make sure to fill out all required information. •Include at least two patient identifiers (eg. name, date of  birth) •Diagnosis of the patient (eg. unilateral, bilateral, unaffected) •Name and contact information for the legally authorized  individual requesting the test •A Pedigree where indicated
Collection Medium:
Pink top tube 6 mL (K2-EDTA) Pink top tube 6 mL (K2-EDTA)
For adults, TWO 6 mL blood in EDTA pink top tube
For infants or small children, 2-5 mL blood in EDTA pink top tube
Testing Schedule:
Suggest Monday - Thursday collection of samples due to shipment to Canada.
Turn Around Time:
Proband turn-around time is 3-12 weeks
Relative turn-around time is 3 weeks
Prenatal turn-around time is 7 business days
This mailout test requires pathologist approval for orders during inpatient encounters. Mailouts staff will not process order without approval. The pathologist covering mailouts approval can be reached at pager #5379. If approval is given, the name of the pathologist can be selected in the drop-down menu to the right of the approval warning in Epic when ordering the test.

Please print, complete and submit the Retinoblastoma (RB1) Genetic Testing Requisition and the Informed Consent to Perform Genetic Testing for Retinoblastoma (RB) from Impact Genetics to the lab, with the specimen and the A-1a Miscellaneous Request.

Diagnosis of Unknown Mutations in the RB1 gene
*DNA is isolated from blood or retinoblastoma tumor.
*The size and copy number of each of the 27 exons and promoter region
 of the RB1 gene is determined by quantitative multiplex PCR.
*The DNA sequence is analyzed.
*In isolated cases of unilateral retinoblastoma, methylation-specific 
*PCR is used to identify promoter hypermethylation.
*If other methods detect no mutation RT-PCR is used to search for
 intronic mutations likely to cause missplicing that leads to exon
*Results are confirmed and reported.

Testing Relatives for a Known Mutation
*DNA is isolated from a blood sample.
*One relatively simple test determines the presence or absence of the
 mutation found in the proband.
CPT Code: