77017-2

CFTR gene mutation analysis [interpretation] in Blood or Tissue Qualitative by MS.MALDI

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Term Description

This term was created for, but is not limited in use to, Sequenom Laboratories' HerediT Cystic fibrosis mutation carrier test, which uses matrix-assisted laser desorption/ionization (MALDI) mass spectrometry to detect 136 mutations and 5 variants that are known to be clinically significant.
Source: Regenstrief LOINC

Part Descriptions

LP186074-3   MS.MALDI-TOF
Matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) is a type of mass spectrometry (MS). MALDI-TOF MS consists of three primary steps: 1) mixing the sample with an organic matrix, which provides a scaffolding and also protons for the ionization process; 2) applying a laser to the matrix, which absorbs energy from the laser and releases it into the sample, which causes the sample to desorb and form singly charged ions; and 3) using a flight tube to analyze the mass of the ions, ultimately resulting in a mass spectrum in which the mass-to-charge is plotted against signal intensity. MALDI-TOF is a soft ionization technique, meaning that molecules remain relatively intact during ionization. Because of this property, MALDI-TOF can be used for protein analysis; in contrast, older MS techniques cause extensive protein fragmentation and therefore cannot be used for this purpose. One application of MALDI-TOF is in clinical microbiology; compared to traditional methods, MALDI-TOF is faster and more accurate in identifying specific microorganisms. PMID: 23824373 Source: Regenstrief LOINC, PMID: 23824373

LP19684-7   CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. 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 MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

CFTR gene targeted mutation analysis

Property

Imp

Time

Pt

System

Bld/Tiss

Scale

Ord

Method

MS.MALDI-TOF

Additional Names

Short Name

CFTR Mut Anl Bld/T MS.MALDI-Imp

Display Name

CFTR gene targeted mutation analysis MS.MALDI-TOF Ql (Bld/Tiss) [Interp]

Consumer Name Alpha Get Info

CFTR gene targeted mutation analysis, Blood or tissue specimen

Example Answer List: LL3289-7

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.52

Last Updated

Version 2.63

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.

Order vs. Observation

Both

Language Variants Get Info

Related Names

• ABC35
• ABCC7
• Blood
• CBAVD
• CF
• CFA
• CFTR/MRP
• Cystic fibrosis transmembrane conductance regulator
• cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
• dJ760C5.1
• Genetics
• Heredity
• Heritable
• Impression
• Impression/interpretation of study
• Impressions
• Inherited
• Interp
• Interpretation
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• MRP7
• Mut
• Mut Anl
• Mutations
• Ordinal
• Point in time
• QL
• Qual
• Qualitative
• Random
• Screen
• Tissue
• Tissue, unspecified
• TNR-CFTR
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

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