LOINC Code 81852-6: 7q11.23 del and dup 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 Chromosome region 7q11.23 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: Molgen

What it does not mean

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

Key facts

• Chromosome region 7q11.23 deletion and duplication mutation analysis in Blood or Tissue by Molecular genetics method
• Chromosome region 7q11.23 deletion+duplication
• Deletion/duplication analysis of the 7q11.23 chromosomal region by various methods, including PCR and MLPA. This test is performed for the diagnosis of Williams-Beuren Syndrome (WBS). The WBS critical region (WBSCR) can also be duplicated in patients with 7q11.23 duplication syndrome.
• Amplification; Blood; Chr 7q11.23; Chr 7q11.23 deletion; Chr 7q11.23 deletion+duplication; Chromosom; Chromosomes; Cyto loc; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.DELDUP; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; Williams Beuren Syndrome

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