Whole Exome Sequencing
| Abbrev Code: | EXOME | ||
| Order Code: | LAB6998 | Order Name: | Hereditary Whole Exome Sequencing |
| Synonyms: | Hereditary | ||
| Methodology: | Next generation sequencing | ||
| CPT Codes: | 81415 x1, 81416 x1, G0452 x1 | ||
| 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. |
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Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 10 mL |
| Minimum\Peds Volume: | 3 mL |
| Container: | Yellow (ACD, Solution A) tube available from laboratory Alternate Containers: 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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