LOINC Code 53037-8: Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]

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 Genetic disease sequence variation interpretation. 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: Observation
• Method: Molgen

What it does not mean

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

Key facts

• Genetic variation clinical significance [Imp]
• Genetic disease sequence variation interpretation
• Single DNA marker or individual allele interpretation in the context of the assessed genetic disease. Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
• Blood; Dis; Diseases; Dz; Gene dis seq var interp; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpret; Interpretation; Interpt; Intrp; Molecular genetics; MOLPATH.GENERAL; Nominal; PCR; Point in time; Random; 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