94204-5
LaboratoryHMBS gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the HMBS gene. Testing is performed to confirm a diagnosis of hydroxymethylbilane synthase deficiency/acute intermittent porphyria.[GHR gene: HMBS]
LOINC 6-Axis Classification
Component
HMBS gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
HMBS Full Mut Anl Bld/T Seq
Display Name
HMBS gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94204-5?
LOINC code 94204-5 identifies "HMBS gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the HMBS gene. Testing is performed to confirm a diagnosis of hydroxymethylbilane synthase deficiency/acute intermittent porphyria.[GHR gene: HMBS]
What does 94204-5 measure?
This code measures HMBS gene 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.