LOINC Code 94202-9: GRHPR 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 GRHPR 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

• GRHPR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
• GRHPR gene deletion+duplication & full mutation analysis
• Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the GRHPR gene. Testing is used to confirm a diagnosis of primary hyperoxaluria type 2 (PH2) and for carrier testing for individuals with a family history of PH2 in the absence of known mutations in the family.
• Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; GLXR; GLYD; glyoxylate reductase/hydroxypyruvate reductase; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PH2; Point in time; Random; sequencing of entire coding region; 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