LOINC Code 79417-2: PMS2 gene del and dup mutation analysis MLPA 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 PMS2 gene deletion+duplication. 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: MLPA

What it does not mean

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

Key facts

• PMS2 gene deletion and duplication mutation analysis in Blood or Tissue by MLPA
• PMS2 gene deletion+duplication
• Deletion/duplication testing for PMS2 gene is performed by using the multiple ligation probe amplification (MLPA) platform. The MLPA will detect full PMS2 gene deletions and multiple-exon and single-exon deletions and duplications. Balanced translocations are not detected by this method.
• Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Hereditary Nonpolyposis Colorectal Cancer; Heredity; Heritable; HNPCC4; Inherited; Lynch syndrome; MLH4; Molecular pathology; MOLPATH; MOLPATH.DELDUP; PMS2CL; PMSL2; Point in time; Primitive Neuroectodermal Tumor; Random; 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