Spreadsheet: 5613f4f4-5f84-4357-9fc6-c29f05f471c5
Sheet: Sheet1

Test Referenced | Entry Type | Mayo ID | Description | Reporting Description | Method | Collection Container | Temperature | Stability | [NAME] | Unit of Measure | [NAME] | Minimum Volume | Reject Due To | Reference Values | Days/Times Performed | Analytic Time | Maximum Lab Time | CPT Units | CPT Code | LOINC® Code | LOINC® Attributes | Always Performed | Orderable Separately | Performing Location
ACVK | Test | ACVK | Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation | ACVRL1 Gene, Known Mutation | Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) |  |  |  | 3 | mL | This test is only applicable if a mutation has previously been identified in a family member of this individual.  Multiple cardiovascular-related gene sequencing tests can be performed on a single specimen after a single extraction. See Multiple Cardiovascular-Related Gene Sequencing Tests in Special Instructions for a list of tests that can be ordered together.  Container/Tube: Lavender top (EDTA) [NAME]: 3 mL Collection Instructions: Send specimen in original tube. Additional Information: 1. Include physician name and phone number with the specimen. 2. Transfusions will interfere with testing for up to 4 to 6 weeks. DNA obtained from white cells may not provide useful information for patients who received a recent transfusion of blood that was not leukocyte-reduced. Wait 4 to 6 weeks until transfused cells have left the patient's circulation before drawing the patient's blood specimen for genotype testing. Forms:  1. Hereditary Hemorrhagic Telangiectasia (HHT) Gene Testing Patient Information Sheet (Supply T650) in Special Instructions 2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions. | 0.5 mL | Hemolysis	NA Thawing	NA Lipemia	NA Icterus	NA Other	NA | An interpretive report will be provided. | Varies | 10 days | 15 days | 1 | 81479 |  |  |  |  | Rochester
ACVK | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
ACVK | Component | ACVKM | Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation | ACVRL1 Gene, Known Mutation | Only orderable as part of profile. For further information see #89393, "Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation." | EDTA (lavender-top) tube: EDTA |  |  | 3 | mL | Only orderable as part of profile. For further information see #89393, "Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation." | 0.5 mL |  | Only orderable as part of profile. For further information see #89393, "Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation." |  |  |  | 1 | 81479 |  |  | Yes | No
ACVKM | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
ACVKM | Result | 31053 | ACVRL1 Result | ACVRL1 Result | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 47961-8 | ACVRL1 gene mutation analysis:Prid:Pt:Bld/Tiss:Nar:Molgen
ACVKM | Result | 31054 | ACVRL1 Interpretation | ACVRL1 Interpretation | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 69047-9 | Service comment 01:Imp:Pt:[NAME]:Nom:
ACVKM | Result | 31055 | ACVRL1 Reviewed by | ACVRL1 Reviewed by | Numeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
ACVK | Component | ACVKQ | ACVRL1 Known Mutation Sequencing | ACVRL1 Known Mutation Sequencing | Only orderable as part of a profile. For further information see #89393 " Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation.". |  |  |  |  |  | Only orderable as part of profile. For further information see #89393, "Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation." |  |  | Only orderable as part of profile. For further information see #89393, "Hereditary Hemorrhagic Telangiectasia, ACVRL1 Gene, Known Mutation." |  |  |  | 2 |  |  |  | Yes | No
ACVKQ | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
ACVKQ | Result | ACVKQ | ACVRL1 Known Mutation Sequencing | ACVRL1 Known Mutation Sequencing | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process