LOINC Code 94226-8: PKHD1 gene full mutation analysis Sequencing Doc (Bld/Tiss)

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component PKHD1 gene full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Both
• Method: Sequencing

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• PKHD1 gene full mutation analysis in Blood or Tissue by Sequencing
• PKHD1 gene full mutation analysis
• 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.
• ARPKD; Blood; Document; FCYT; Fibrocystin gene; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive); Random; sequencing of entire coding region; TIGM1; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions