82538-0
LaboratoryCALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Full sequencing analysis of exon 9 in the CALR gene is performed to establish a diagnosis of essential thrombocythemia (ET) or primary myelofibrosis (PMF).[OMIM: 109091] All the pathologic CALR mutations reported to date are frame-shift mutations due to somatic insertions or deletions.[PMID: 24325359] Two variants, a 52-base pair deletion (c.1092_1143del, L367fs*46) and a 5-bp insertion (c.1154_1155insTTGCC, K385fs*47), are the more common and account for more than 80% of the CALR mutations seen.[PMID: 24325356] Variants outside of exon 9 are not detected by this test.
LOINC 6-Axis Classification
Component
CALR gene exon 9 full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
CALR Exon 9 Full Mut Anl Bld/T
Display Name
CALR gene exon 9 full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82538-0?
LOINC code 82538-0 identifies "CALR gene exon 9 full mutation analysis in Blood or Tissue by Molecular genetics method". Full sequencing analysis of exon 9 in the CALR gene is performed to establish a diagnosis of essential thrombocythemia (ET) or primary myelofibrosis (PMF).[OMIM: 109091] All the pathologic CALR mutations reported to date are frame-shift mutations due to somatic insertions or deletions.[PMID: 24325359] Two variants, a 52-base pair deletion (c.1092_1143del, L367fs*46) and a 5-bp insertion (c.1154_1155insTTGCC, K385fs*47), are the more common and account for more than 80% of the CALR mutations seen.[PMID: 24325356] Variants outside of exon 9 are not detected by this test.
What does 82538-0 measure?
This code measures CALR gene exon 9 full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT 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.