PKHD1 gene full mutation analysis in Blood or Tissue by Sequencing   94226-8

LOINC Code


LOINC code94226-8
namePKHD1 gene full mutation analysis in Blood or Tissue by Sequencing
descriptionFull gene sequence analysis to evaluate for mutations in the PKHD1 gene in patient's suspected of having autosomal recessive polycystic kidney disease (ARPKD). Testing may also be performed on at-risk individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified.
statusACTIVE

Fully-Specified Name

componentPKHD1 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 namePKHD1 gene 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

ARPKD
Blood
Document
FCYT
Fibrocystin gene
Finding
Findings
full gene sequencing
Full Mut Anl
Genetics
Heredity
Heritable
high-throughput sequencing
HTS
Inherited
Molecular pathology
MOLPATH
Mut
Mutations
Next generation sequencing
NGS
Point in time
Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)
Random
sequencing of entire coding region
TIGM1
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

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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