100694-9

LOINC Code


LOINC code100694-9
name
statusACTIVE

Fully-Specified Name

componentSMN1 gene silent carrier analysis
propertyPrThr  =  Present or threshold:  The Property PrThr stands for “Presence or Threshold”, meaning either a) the actual presence or absence of an analyte, or b) that the amount of analyte detected is over some predetermined threshold.
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleOrd  =  Ordinal:  Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameBCD541; Blood; Gemin 1; GEMIN1; Kugelberg-Welander disease; Molecular genetics; Molecular pathology; MOLPATH; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; SMA; SMA gene; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMN1 carrier analysis;

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationSMN1 carrier an

History/Usage

first released
last updated2.73
last change typeADD  - added

Related Names

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Copyright © 2026 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2026, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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