Whole Exome Sequencing


Sunquest Code:EXOMECoPath Code:EXOME
Epic Code:LAB6998Epic Name:Hereditary Whole Exome Sequencing
Synonyms:Hereditary
Methodology:Next generation sequencing
Turnaround Time:Performed Mon-Fri; turnaround time for exome sequencing could be up to 6 months.
Special Instructions:A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Bone Marrow Transplant patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostic lab to see if a pre-transplant sample is available.
Associated Links:

NGS Whole Genome/Exome Testing Consent Form


Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:3 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Frozen or clotted specimen; incorrect anticoagulant; specimen more than 5 days old. DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:This testing is used to identify inherited risks for cancers in patients with a clinical presentation and/or family history strongly suggestive of a hereditary cancer predisposition. This testing is typically performed through a genetic counselor and many insurance companies require documentation or genetic counseling in order for the testing to be covered.


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