FTCD gene full mutation analysis in Blood or Tissue by Sequencing   94200-3

LOINC Code


LOINC code94200-3
nameFTCD gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull gene sequence analysis for the detection of a mutation in the coding regions and intron/exon boundaries of the FTCD gene for confirming glutamate formiminotransferase deficiency in a patient or ruling out other diseases associated with high levels of urine formiminoglutamate.
statusACTIVE

Fully-Specified Name

componentFTCD gene full mutation 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.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
scaleDoc  =  Document:  A document that could be in many formats (XML, narrative, etc.)
methodSequencing

Additional Names

short nameFTCD Full Mut Anl Bld/T Seq

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

Blood
Document
Finding
Findings
formimidoyltransferase cyclodeaminase
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
LCHC1
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
Point in time
Random
sequencing of entire coding region
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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