Rekord LOINC: 72211-6

Tylko wersja angielska ACTIVE

Szczegóły rekordu LOINC
Informacje podstawowe
Kod LOINC: 72211-6 FHIR
Long Common Name: t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
Short Name: t(15;17) BCR2/control Mar
Status: ACTIVE
Class Type: 1
Fully Specified Name (FSN)
EN Oryginalna wersja angielska
t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript : NRto : Pt : Bone mar : Qn : Molgen
Klasyfikacja
Class:
ENMOLPATH.TRNLOC
Consumer Name: -
Order/Observation: Both
Panel Type: -
Informacje dodatkowe
Units Required: -
Example Units: %
UCUM Units: %
Version Last Changed: 2.42
Definicja i opis
EN 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.
Powiązane nazwy

ABL; ABL1; ABL1 transcript; Acute promyelocytic leukemia; APL; BM; BON; Bone marrow; breakpoint cluster region 2; control gene; DNA; gene fusion; gene translocation; Genetics; Heredity; Heritable; Inherited; MAR; Marrow (bone); minimal angle of resolution; Minimum angle of resolution; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.TRANSLOCATION; Myelogenous; MYL; NR1B1; Number ratio; PCR; PML-1; PML-2; PML-3; PML-3B; PML-X; Point in time; Promyelocytic leukemia; QNT; Quan; Quant; Quantitative; Random; RAR alpha form; RARalpha; Retinoic acid receptor alpha; RNA; T prime; t(15,17) (PML,RARA) gene translocation; t(15,17)(PML,RARA) gene translocation breakpoint cluster region 2; t(15,17)(q22,q11.2-q12); t(15;17) BCR2; t(15;17)(PML,RARA); translocation