94197-1
LaboratoryCYP21A2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the CYP21A2 gene. Testing is performed for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).
LOINC 6-Axis Classification
Component
CYP21A2 gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH
Order/Observation
Both
Short Name
CYP21A2 Del+Dup + Full Mut Anl Bld/T
Display Name
CYP21A2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94197-1?
LOINC code 94197-1 identifies "CYP21A2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the CYP21A2 gene. Testing is performed for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).
What does 94197-1 measure?
This code measures CYP21A2 gene deletion+duplication & full mutation analysis in Bld/Tiss. It belongs to the MOLPATH 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.