BMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method   75735-1

LOINC Code


LOINC code75735-1
nameBMPR1A gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
descriptionPredictive testing for juvenile polyposis syndrome where a point mutation or small insertion, deletion, or duplication has been identified previously in an affected family member.
statusACTIVE

Fully-Specified Name

componentBMPR1A gene mutation analysis limited to known familial mutations
propertyFind  =  Finding
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
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
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 nameBMPR1A Fam Mut Anl Bld/T

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationBoth

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

History/Usage

first released
last updated2.66
last change typeMAJ  - change to name field other than Component;
change reasonBased on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Related Names

10q23del
Activin A receptor, type II-like kinase 3
ACVRLK3
ALK3
Blood
bone morphogenetic protein receptor, type IA
CD292
Document
Fam Mut Anl
Finding
Findings
JPS
Juvenile polyposis syndrome
LMTED
LTD
Molecular genetics
Molecular pathology
MOLPATH
Mut
Mutation
Mutations
Muts
PCR
Point in time
Random
SKR5
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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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