AutoICD API

72216-5

Laboratory

t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method

Definition

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.

LOINC 6-Axis Classification

Component

t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript

Property

NRto

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Qn

Method Type

Molgen

Details

Class

MOLPATH.TRNLOC

Order/Observation

Both

Short Name

t(15;17) BCR1/control Bld/T

Display Name

t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript Molgen (Bld/Tiss) [# ratio]

Related Names

ABLABL1ABL1 transcriptAcute promyelocytic leukemiaAPLBloodbreakpoint cluster region 1control geneDNAgene fusiongene translocationGeneticsHeredityHeritableInheritedlong formMolecular geneticsMolecular pathologyMOLPATHMOLPATH.TRANSLOCATIONMyelogenousMYLNR1B1Number ratioPCRPML-1PML-2PML-3PML-3BPML-XPoint in timePromyelocytic leukemiaQNTQuanQuantQuantitativeRandomRAR alpha formRARalphaRetinoic acid receptor alphaRNAT primet(15,17) (PML,RARA) gene translocationt(15,17)(PML,RARA) gene translocation breakpoint cluster region 1t(15,17)(q22,q11.2-q12)t(1517) BCR1t(1517)(PML,RARA)TissueTissue, unspecifiedtranslocationWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 72216-5?

LOINC code 72216-5 identifies "t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method". 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.

What does 72216-5 measure?

This code measures t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript in Bld/Tiss. It belongs to the MOLPATH.TRNLOC class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.