LOINC Code 99058-0: DHCR7 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 DHCR7 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

• DHCR7 gene full mutation analysis in Blood or Tissue by Sequencing
• DHCR7 gene full mutation analysis
• 7-dehydrocholesterol reductase; 7-DHC reductase; Blood; D7SR; delta-7-dehydrocholesterol reductase; Document; Finding; Findings; full gene sequencing; Full Mut Anl; high-throughput sequencing; HTS; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; Point in time; Putative sterol reductase SR-2; Random; sequencing of entire coding region; SLOS; Smith-Lemli-Opitz syndrome; Sterol Delta(7)-reductase; 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