Spreadsheet: 6a4e6041-35ee-4ad1-bc97-64ba6000abec
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
HHTP | Test | HHTP | Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis | ENG and ACVRL1, Full Gene Analysis | Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Dosage Analysis by [NAME] (MLPA) (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) |  |  |  | 3 | mL | 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
HHTP | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
HHTP | Component | HHTS | Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Sequence | ENG and ACVRL1, Full Gene Analysis | Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis (PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) |  |  |  |  |  | Draw blood in a lavender-top (EDTA) tube(s), and send 3 mL of EDTA whole blood in original VACUTAINER(S). Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." | 0.5 mL |  | Only orderable as part of a profile. For further informationsee #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." |  |  |  |  |  |  |  | Yes | No
HHTS | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
HHTS | Result | 31056 | ENG and ACVRL1 Result | ENG and ACVRL1 Result | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 53837-1
HHTS | Result | 31057 | ENG and ACVRL1 Interpretation | ENG and ACVRL1 Interpretation | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | 69047-9
HHTS | Result | 31058 | ENG and ACVRL1 Reviewed by | ENG and ACVRL1 Reviewed by | Numeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
HHTP | Component | HHTSQ | Hereditary Hemorrhagic Telangiectasia Gene Sequencing | HHT Gene Sequencing | Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." |  |  |  |  |  | Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." |  |  | Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." |  |  |  |  |  |  |  | Yes | No
HHTSQ | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
HHTSQ | Result | HHTSQ | HHT Gene Sequencing | HHT Gene Sequencing | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process
HHTP | Component | EALDD | Hereditary Hemorrhagic Telangiectasia, ENG and [NAME]Deletion/Duplication, Molecular Analysis | ENG and ACVRL1, [NAME] | Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." |  |  |  |  |  | Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." | 0.5 mL |  | Only orderable as part of a profile. For further information see #89394 "Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1, Full Gene Analysis." |  |  |  |  |  |  |  | Yes | No
EALDD | [NAME] | WBEDTA | [NAME] EDTA |  |  |  | Ambient
EALDD | Result | 31719 | ENG and ACVRL1, [NAME] | ENG and ACVRL1, [NAME] | Alphanumeric |  |  |  |  |  |  |  |  |  |  |  |  |  |  | In Process