VHL gene full mutation analysis in Blood or Tissue by Sequencing 82528-1
LOINC Code
| LOINC code | 82528-1 | ||
|---|---|---|---|
| name | VHL gene full mutation analysis in Blood or Tissue by Sequencing | ||
| description | Full sequencing analysis of the three coding exons and intron/exon boundaries of the VHL gene.[OMIM: 608537][NCBI Gene ID: 7428] This test is performed for patients with suspected hereditary erythrocytosis, or familial erythrocytosis, type 2 (ECYT2)[OMIM: 263400], associated with lifelong increased RBC mass, elevated RBC count, hemoglobin, and hematocrit. Mutations in the VHL gene that cause ECYT2 are inherited in an autosomal recessive fashion and associated with normal to increased serum erythropoietin (EPO) levels. For genetic testing for von Hippel-Lindau (VHL) disease, see VHL gene deletion+duplication & full mutation analysis [LOINC: 82533-1]. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | VHL gene full mutation analysis | ||
| property | Find = Finding | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Bld/Tiss Bld = Whole blood Tiss = Tissue, unspecified | ||
| scale | Doc = Document: A document that could be in many formats (XML, narrative, etc.) | ||
| method | Sequencing | ||
Additional Names | |||
| short name | VHL gene Full Mut Anl Bld/T Seq | ||
Basic Attributes | |||
| class | MOLPATH.MUT | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
Ask At Order Entry | |||
Ask at Order Entry (AOE) observations for a clinical observation or laboratory test. A LOINC term may represent a single AOE observation or a panel containing several AOE observations.
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Associated Observations | |||
LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations. | |||
History/Usage | |||
| first released | |||
| last updated | 2.65 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.
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