95551-8
LaboratoryChromosome region 17p11.2 deletion in Blood or Tissue by FISH
Definition
FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).
LOINC 6-Axis Classification
Component
Chromosome region 17p11.2 deletion
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
FISH
Details
Class
MOLPATH.DELDUP
Order/Observation
Both
Short Name
Chr 17p11.2 Del Bld/T FISH
Display Name
17p11.2 del FISH Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 95551-8?
LOINC code 95551-8 identifies "Chromosome region 17p11.2 deletion in Blood or Tissue by FISH". FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).
What does 95551-8 measure?
This code measures Chromosome region 17p11.2 deletion in Bld/Tiss. It belongs to the MOLPATH.DELDUP 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.