Blood (unilateral disease with no prior family hx)

	and
Pink top tube		Pink top tube

For adults, TWO 6 mL blood in EDTA pink tube tube
For infants or small children, 2-5 mL blood in EDTA pink tube tube

Suggest Monday - Thursday collection of samples due to shipment to Canada.

Please print, complete and submit the Retinoblastoma (RB1) Genetic Testing Requisition and the Informed Consent to Perform Genetic Testing for Retinoblastoma from Retinoblastoma Solutions 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
 skipping.
*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.

Unilateral Proband with NO Tumor
Isolation of DNA from blood, RNA from blood - 83890(x2)

4 for RNA sequencing, 2 to test blood) - 83898 (x64)

Separation by agarose gel (1 ASPCR, 14 exon pairs, 2 blood) - 83894 (x31)

Separation by acrylamide gel (3 Q groups, 27 exons & Pr,2 blood) - 83894 (x32)

QM PCR mutation scanning (28 exons, 2 blood) - 83903 (x30)

Promotor hypermethylation analysis - 83904 (x3)

Mutation identification by sequencing (28 exons, 2 blood) - 83904 (x30)