53836-3

ABCD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Active

Part Description

LP71403-7   ABCD1 gene
The ABCD1 gene (ATP-binding cassette, sub-family D (ALD), member 1) [HGNC Gene ID:61] is located on chromosome Xq28. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008] [NCBI Gene ID:215] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

ABCD1 gene targeted mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Molgen

Additional Names

Short Name

ABCD1 gene Mut Anl Bld/T

Display Name

ABCD1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)

Consumer Name Alpha Get Info

ABCD1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.26

Last Updated

Version 2.66

Change Reason

Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based 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.

Order vs. Observation

Both

Member of these Panels

Language Variants Get Info

Related Names

• ABC42
• Adrenoleukodystrophy
• Adrenoleukodystrophy protein
• ALD
• ALDP
• AMN
• ATP-binding cassette, sub-family D
• ATP-binding cassette, sub-family D (ALD), member 1
• Blood
• Document
• Finding
• Findings
• Genetics
• Heredity
• Heritable
• Inherited
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mut Anl
• Mutations
• PCR
• Point in time
• Random
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53836-3

LOINC Copyright

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.