81852-6
LaboratoryChromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Deletion/duplication analysis of the 7q11.23 chromosomal region by various methods, including PCR and MLPA. This test is performed for the diagnosis of Williams-Beuren Syndrome (WBS). The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 duplication syndrome.
LOINC 6-Axis Classification
Component
Chromosome region 7q11.23 deletion+duplication
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.DELDUP
Order/Observation
Both
Short Name
Chr 7q11.23 Del+Dup Bld/T
Display Name
7q11.23 del and dup mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 81852-6?
LOINC code 81852-6 identifies "Chromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method". Deletion/duplication analysis of the 7q11.23 chromosomal region by various methods, including PCR and MLPA. This test is performed for the diagnosis of Williams-Beuren Syndrome (WBS). The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 duplication syndrome.
What does 81852-6 measure?
This code measures Chromosome region 7q11.23 deletion+duplication 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.