Container: Whole blood collected in a lavender top tube (K2EDTA or K3EDTA).
Volume: Adult/Child 3-7 mL; Infant 1-2 mL
Acceptable specimen: High molecular weight genomic DNA extracted from EDTA whole blood (lavender top tube) and treated with RNase. Minimum 2ug at 100ng/uL, preferably accompanied with 1-2% agarose gel run image and 260/280 ratio. Genomic DNA is the preferred specimen for international requests. Other tissues are not acceptable.
This test is offered on postnatal samples only.
Each sample must be labeled with at least two patient identifiers, preferably patient’s full name and birth date. The information on the specimen must match the information on the requisition.
UCLA Pathology Outreach Services
10833 Le Conte Avenue, A3-240 CHS
Los Angeles, CA 90095-1732 | Phone: (310) 267-2680
Upon final sign-out by a pathologist, the report is auto-faxed to the ordering clinician. Report turn-around time is approximately 4 weeks from the time sample is received by the laboratory. Please note: Family Trio testing will begin when all samples in the Trio have been received by the laboratory.
A medical provider can request reanalysis of the exome if desired. The data will be reassessed to determine if any of the variant status or the gene status changed since the date of initial exome or if there is a variant that could explain any new clinical information provided at the time of reanalysis request. Reanalysis will be based on currently available scientific information. A new consent may be required. Please contact Client Services, 310-267-2680, for fee information, to request reanalysis, or to speak with a genetic counselor.