LOINC Code 79570-8: MLH1+MSH2+MSH6+PMS2 gene del+dup and full mutation analysis Molgen 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 MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & 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: Molgen

What it does not mean

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

Key facts

• MLH1+MSH2+MSH6+PMS2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
• MLH1+MSH2+MSH6+PMS2 gene deletion+duplication & full mutation analysis
• Gene mutations, deletion and duplication analysis is performed to confirm a clinical diagnosis of Hereditary nonpolyposis colorectal cancer (HNPCC). Genes known to cause HNPCC, including MLH1, MSH2, MSH6 and PMS2, may be amplified by PCR methods and sequenced. Detection of copy number variations (deletions and duplications) may be performed by multiple-ligation-probe amplification assay (MLPA).
• Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Hereditary Nonpolyposis Colorectal Cancer; HNPCC4; Lynch syndrome; MLH1+MSH2+MSH6+PMS2 del+dup; MLH4; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PMS2CL; PMSL2; Point in time; Primitive Neuroectodermal Tumor; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; Turcot syndrome; 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