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.
Clinical Exome Sequencing Requisition and Consent Form (PDF)
Instructions For Completing Requisition (page 1)
- Each sample submitted for clinical exome sequencing must be accompanied by a completed requisition (page 1). Family Trio testing includes clinical exome sequencing on each sample in the Trio, therefore, three requisitions are required; one for each parent (or family member/comparator) and one for the proband.
Instructions For Completing Consent (page 2-4)
- Each request must be accompanied by a consent form signature page (page 2) signed by patient or guardian and ordering clinician or genetic counselor.
- In addition, the Family Trio request requires a completed and signed "Parental or Family Member Consent".
- All samples must have at least two patient identifiers, preferably patient's full name and date of birth.
- Each sample must be accompanied by a completed Requisition form (page 1) and signed Patient Consent form (page 2).
- Delivery address:
UCLA Pathology Outreach Services
10833 Le Conte Avenue, A3-240 CHS
Los Angeles, CA 90095-1732 | Phone: (310) 267-2680
- Ship samples overnight at room temperature, Monday-Thursday only to ensure weekday delivery to lab. Blood samples must be received by lab within 96 hours of collection.
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.
- Insurance billing: We will submit claim to insurance provided pre-authorization to perform testing has been obtained from insurance company. Please include a copy of patient's demographic face sheet, a copy of front and back of insurance card and diagnosis code(s).
- Upon request, we can assist with insurance verification/preauthorization. Insurance verification and preauthorization is not a guarantee of payment. If assistance is needed, please contact Client Services at 310-267-2680 to request a ‘Patient Insurance Verification’ form prior to sending test request.
- Institutional billing: Please contact Client Services at 310-267-2680 to make arrangements for billing to your institution.
- Self-pay: This option requires payment in full at time of sample submission. Please contact Client Services at 310-267-2680 for additional information. Payment options include checks, money orders, credit card payments, and wire transfers. Please make checks and money orders payable to the UC Regents. American Express, Discover, Mastercard, or Visa payments are accepted.
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.