LOINC Code 72654-7: SNRPN gene 15q11 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 SNRPN gene 15q11 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

• SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
• SNRPN gene 15q11 deletion+duplication
• Approximately 70% of cases of Prader-Willi syndrome (PWS) are caused by paternal deletion of the 15q11-q13 region. This region includes the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene. This code is based on, but not limited to, Kreatech Diagnostic's MD Prader-Willi SNRPN (15q11) region probe to detect copy numbers of the SNRPN gene region at 15q11. Labs may report the X number of cells out of Y number that have the probe deletion (or duplication), which is usually 100% if present (i.e. 20 out of 20, 100%). Result are reported in ISCN (International System for Human Cytogenetic Nomenclature) format. This test does not detect uniparental disomy (UPD, LOINC 34503-3), which may also cause PWS (and Angelman syndrome, AS).
• Amplification; Blood; Del; Del+Dup; Deletions; Dp; Fluorescent in situ hybridization; Genetics; HCERN3; Heredity; Heritable; Identity or presence; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELETIONS; Nominal; Point in time; Prader Willi syndrome; PWCR; PWS; Random; RT-LI; small nuclear ribonucleoprotein polypeptide N; SM-D; SMN; sm-N; SNRNP-N; SNRPN 15q11; SNRPN 15q11 del+dup; SNURF-SNRPN; 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