DHCR7 gene full mutation analysis in Blood or Tissue by Sequencing   99058-0

LOINC Code


LOINC code99058-0
nameDHCR7 gene full mutation analysis in Blood or Tissue by Sequencing
statusACTIVE

Fully-Specified Name

componentDHCR7 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 nameDHCR7 gene Full Mut Anl Bld/T Seq

Basic Attributes

classMOLPATH.MUT
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 updated2.72
last change typeADD  - added

Related Names

7-dehydrocholesterol reductase
7-DHC reductase
Blood
D7SR
delta-7-dehydrocholesterol reductase
Document
Finding
Findings
full gene sequencing
Full Mut Anl
high-throughput sequencing
HTS
Molecular pathology
MOLPATH
MOLPATH.MUTATIONS
Mut
Mutations
Next generation sequencing
NGS
Point in time
Putative sterol reductase SR-2
Random
sequencing of entire coding region
SLOS
Smith-Lemli-Opitz syndrome
Sterol Delta(7)-reductase
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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