73749-4
Laboratory4p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal
Definition
FISH studies are performed to detect a deletion on the short arm of chromosome 4 (4p16.3) in patients, primarily newborns, suspected of having Wolf-Hirschhorn syndrome (WHS). FISH signal pattern indicating a loss of 4p16.3 is consistent with a diagnosis of WHS.
LOINC 6-Axis Classification
Component
4p16.3 chromosome deletion
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
FISH
Details
Class
MOLPATH.DEL
Order/Observation
Both
Short Name
4p16.3 Del Bld/T FISH
Display Name
4p16.3 chromosome del FISH Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 73749-4?
LOINC code 73749-4 identifies "4p16.3 chromosome deletion [Identifier] in Blood or Tissue by FISH Nominal". FISH studies are performed to detect a deletion on the short arm of chromosome 4 (4p16.3) in patients, primarily newborns, suspected of having Wolf-Hirschhorn syndrome (WHS). FISH signal pattern indicating a loss of 4p16.3 is consistent with a diagnosis of WHS.
What does 73749-4 measure?
This code measures 4p16.3 chromosome deletion in Bld/Tiss. It belongs to the MOLPATH.DEL 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.