94226-8
LaboratoryPKHD1 gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis to evaluate for mutations in the PKHD1 gene in patient's suspected of having autosomal recessive polycystic kidney disease (ARPKD). Testing may also be performed on at-risk individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified.
LOINC 6-Axis Classification
Component
PKHD1 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
PKHD1 gene Full Mut Anl Bld/T Seq
Display Name
PKHD1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94226-8?
LOINC code 94226-8 identifies "PKHD1 gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis to evaluate for mutations in the PKHD1 gene in patient's suspected of having autosomal recessive polycystic kidney disease (ARPKD). Testing may also be performed on at-risk individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified.
What does 94226-8 measure?
This code measures PKHD1 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.