72518-4
LaboratoryCHEK2 gene c.470C>T and 1100delC [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Definition
Targeted mutation analysis for the variant 470C>T (I157T, [NCBI dbSNP ID: rs17879961]) in exon 3 and the 1-base pair deletion (1100delC) in exon 10 of the CHEK2 gene is performed for the diagnosis of various cancers, including breast, ovarian, colorectal and prostate cancer.
LOINC 6-Axis Classification
Component
CHEK2 gene.c.470C>T & 1100delC
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
CHEK2 c.470C>T+1100delC Bld/T
Display Name
CHEK2 gene c.470C>T and 1100delC Molgen Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 72518-4?
LOINC code 72518-4 identifies "CHEK2 gene c.470C>T and 1100delC [Identifier] in Blood or Tissue by Molecular genetics method Nominal". Targeted mutation analysis for the variant 470C>T (I157T, [NCBI dbSNP ID: rs17879961]) in exon 3 and the 1-base pair deletion (1100delC) in exon 10 of the CHEK2 gene is performed for the diagnosis of various cancers, including breast, ovarian, colorectal and prostate cancer.
What does 72518-4 measure?
This code measures CHEK2 gene.c.470C>T & 1100delC 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.