LOINC Code 73735-3: ACADVL gene full mutation analysis Sequencing Nom (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 ACADVL 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

• ACADVL gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
• ACADVL gene full mutation analysis
• Mutations in the ACADVL gene are responsible for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency. Diagnostic testing is performed for at-risk individuals who have symptoms of VLCAD deficiency. Testing may also be performed for carrier screening of at-risk individuals in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or disease-causing mutations have not been identified. The submitter's lab performs DNA sequencing test for the presence of a mutation(s) in all 20 coding exons of the ACADVL gene. The answer list provide with the term is an example and not an complete representation of mutations that may be found.
• ACAD6; ACADVL mut anl; acyl-CoA dehydrogenase, very long chain; Blood; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Identity or presence; Inherited; LCACD; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Nominal; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; VLCAD; 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