LOINC Code 95551-8: 17p11.2 del FISH 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 17p11.2 deletion. 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: FISH

What it does not mean

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

Key facts

• Chromosome region 17p11.2 deletion in Blood or Tissue by FISH
• Chromosome region 17p11.2 deletion
• FISH studies are performed using a probe targeting the p11.2 region on chromosome 17 to detect a deletion consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. LOINC codes with a Scale of "Doc" can be used for the order and to represent the overall report and collection of results (clinical indication, method, overall findings, ISCN result, interpretation, etc.).
• Blood; Chr 17p11.2; Chr 17p11.2 deletion; Chromosom; Chromosomes; Cyto loc; Del; Deletions; Document; Finding; Findings; Fluorescent in situ hybridization; Molecular pathology; MOLPATH; MOLPATH.DELDUP; Point in time; Potocki-Lupski syndrome; PTLS; RAI1; Random; Smith-Magenis syndrome; 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