Germline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencing   94587-3

LOINC Code


LOINC code94587-3
nameGermline disorder chromosome analysis in Amniotic fluid or Chorionic villus sample by Mate pair sequencing
descriptionThis term is used for the order & overall report for chromosome analysis by sequencing methods, such as mate pair sequencing, for the detection of germline (congenital) chromosome abnormalities in amniotic fluid or chorionic villus sampling (CVS) specimens. Results may include the overall findings, the result in ISCN format, testing methods, interpretation, recommendations, and references. Testing is performed when previous cytogenetic studies are unsuccessful or detect a chromosome abnormality of unknown significance. Results provide diagnostic, prognostic, and therapeutic information for patient care.
statusACTIVE

Fully-Specified Name

componentGermline disorder chromosome analysis
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.
systemAmnio fld/CVS
    Amnio fld  =  Amniotic fluid
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodMate pair sequencing

Additional Names

short nameGermline chromo analy Amn/CVS MPSeq

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 updated2.68
last change typeADD  - added

Related Names

AF
Amn
Amn fl
Amn/CVS
Amnio
Amniotic flu
Amniotic fluid
Chorionic villi
Chorionic villus sample
Chrom analy
Chromosom
Chromosomes
Cytogenetics
Document
Finding
Findings
Genetics
Germline disorder chromo analy
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Karyotype
Molecular pathology
MOLPATH
MPSeq
Next generation sequencing
NGS
Point in time
Random

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, 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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