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Exome Sequencing, Proband only

Item Value
Approval req'd? Approval by Dr. Ed Thornborrow required for inpatient testing.
Available Stat? No
Test code EXOPB
Test group Exomes
Performed by GeneDx
Sendout? Yes
Method Exome Sequencing (HiSeq)
Collection Instructions This code is only to be used if there will be no parental samples available to be tested.

Fully completed GeneDx Exome Sequencing requisitions.

Click here for form

Further, if the sequence data is to be transferred to UCSF for review the patient (or legal guardian) must sign a consent form for this transfer.

Container type Lavender top (6 mL preferred)
Amount to Collect 6 mL blood
Sample type EDTA Whole blood
Preferred volume 6 mL blood
Min. Volume 2 mL blood
Processing notes Ship sample to GeneDx at ambient temparature.

Ship samples overnight at room temperature, Monday-Thursday only. Stability may extend up to 7 days if kept refrigerated.
Normal range
Stability 5 days refrigerated
Turn around times 10-12 weeks
Additional information Clinical Exome Sequencing is a test for identifying disease-causing DNA variants within the 1% of the genome which codes for proteins (exons) or flanks the regions which code for proteins (splice junctions). This test is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders. Even though there are over 2,000 Mendelian diseases caused by known DNA variants, many patients who are suspected or have been clinically demonstrated to have rare genetic disorders do not receive a molecular diagnosis, often due to genetic heterogeneity and the relative inefficiency of the current sequencing technology. It is widely accepted that about 85% of known disease-causing variants occur within the 1% of the genome containing the exons and splice junctions; thus, surveying just this portion of the genome is an efficient and powerful clinical diagnostic tool for individual patients.
CPT coding 81479-90
Last Updated 9/23/2016 10:36:04 AM
Entry Number 1571
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