t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method 72212-4
LOINC Code
| LOINC code | 72212-4 | ||
|---|---|---|---|
| name | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method | ||
| description | A balanced reciprocal translocation involving chromosomes 15 and 17, (15;17)(q22;q21), results in a fused transcript between PML and RARA genes. This gene fusion produces the PML-RARA fusion protein, a transcriptional repressor, which causes acute promyelocytic Leukemia (APL). Depending on the breakpoint within the PML gene, various fusion transcripts will be generated: long (L or bcr1), variant (V or bcr2), and short (S or bcr3). Techniques like real-time PCR are used to detect the PML-RARA fused transcripts and breakpoints. An endogenous control gene transcript (e.g. ABL1, GUS or BCR) is amplified along with the fusion transcript of interest. Standard curves of known amounts of both the control and fusion transcript are used to calculate the ratio of the fusion transcript signal to the control gene signal. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript | ||
| property | NRto = Number Ratio | ||
| 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 | Bone mar = Marrow (bone) | ||
| scale | Qn = Quantitative: The result of the test is a numeric value that relates to a continuous numeric scale. Reported either as an integer, a ratio, a real number, or a range. The test result value may optionally contain a relational operator from the set {<=, <, >, >=}. Valid values for a quantitative test are of the form "7", "-7", "7.4", "-7.4", "7.8912", "0.125", "<10", "<10.15", ">12000", 1-10, 1:256 | ||
| method | Molgen = Molecular Genetics: General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods. | ||
Additional Names | |||
| short name | t(15;17) BCR1/control Mar | ||
Basic Attributes | |||
| class | MOLPATH.TRNLOC | ||
| type | 1 Laboratory | ||
| order vs. observation | Both | ||
| example UCUM units | % The Unified Code for Units of Measure (UCUM) is a code system intended to include all units of measures being contemporarily used in international science, engineering, and business (www.unitsofmeasure.org) | ||
| example unit | % | ||
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 | 2.42 | ||
| last change type | MIN - change to field other than name | ||
Related Names | |||
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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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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