RB1 Gene Analysis Full Sequence, Bilateral

Label Mnemonic:	RB1B
Epic code:	LAB7505
Downtime form:	Doctor/Provider Orders - Pathology Core and Specialty Care Nursery

Commercial Mailout Laboratory
6240-8 RCP
356-8593

Specimen(s):

Blood

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:

	and		or		and
Pink top tube 6 mL (K2-EDTA)	and	Pink top tube 6 mL (K2-EDTA)	or	Lavender top tube 3 mL (EDTA)	and	Lavender top tube 3 mL (EDTA)

Minimum:

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

10 mL whole blood required for adults
2-5 mL whole blood required for infants or small children

Delivery Instructions:

Whole blood sample should arrive at referral lab within 48 hours of collection; viable for FIVE days at room temperature.

Testing Schedule:

Collect samples Monday-Wednesday only; no weekends, no holidays, or no day before a holiday collection.

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

Comments:

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 #3724. 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 Genetic Test Requisition and the Informed Consent to Perform Genetic Testing from Impact Genetics to the lab, with the specimen.

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.

CPT Code:

81479