72214-0
Laboratoryt(15;17)(q24.1;q21.1)(PML,RARA) bcr3 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) bcr3 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) BCR3/control Bld/T
Display Name
t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 fusion transcript/control transcript Molgen (Bld/Tiss) [# ratio]
Related Names
Frequently Asked Questions
What is LOINC code 72214-0?
LOINC code 72214-0 identifies "t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 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 72214-0 measure?
This code measures t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 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.