LOINC Code 73750-2: RAI1 gene 17p11.2 del and dup mutation analysis FISH Nom (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 RAI1 gene 17p11.2 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: FISH

What it does not mean

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

Key facts

• RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
• RAI1 gene 17p11.2 deletion+duplication
• FISH studies are performed using an SMS probe to detect a deletion or duplication within the critical region of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2. FISH signal pattern indicating a loss of the RAI1 critical region is 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. The answer list provided with this code is an example and not meant to include all possible results.
• Amplification; Blood; Del; Del+Dup; Deletions; Dp; Fluorescent in situ hybridization; Genetics; Heredity; Heritable; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELETIONS; Nominal; Point in time; Random; Retinoic acid induced 1; SMCR; SMS; 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