94242-5

BTD gene full mutation analysis in Blood or Tissue by Sequencing

Active

Term Description

Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the NBTD gene to confirm a clinical diagnosis of biotinidase deficiency. Testing may also be performed on at-risk family members when there is a family history of biotinidase deficiency but a disease-causing mutation has not been previously identified.[GHR gene: NBTD]
Source: Regenstrief LOINC

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP71410-2   BTD gene
The BTD gene (biotinidase) [HGNC Gene ID:1122] is located on chromosome 3p25. The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013] [NCBI Gene ID:686] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

BTD gene full mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Sequencing

Additional Names

Short Name

BTD gene Full Mut Anl Bld/T Seq

Display Name

BTD gene full mutation analysis Sequencing Doc (Bld/Tiss)

Consumer Name Alpha Get Info

BTD gene variant analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH

Type

Laboratory

First Released

Version 2.68

Last Updated

Version 2.68

Order vs. Observation

Both

Language Variants Get Info

Related Names

• biotinase
• biotinidase
• Blood
• Document
• 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
• Random
• sequencing of entire coding region
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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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.