54083-1
CFTR gene mutations found [Identifier] in DBS by Molecular genetics method Nominal
Active
Part Description
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
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CFTR Mut Anl DBS
- Display Name
- CFTR gene targeted mutation analysis Molgen Nom (DBS)
- Consumer Name Alpha Get Info
- CFTR gene targeted mutation analysis, Dried blood spot
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- 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
- Common Test Rank Get Info
- 17117
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54078-1 | Cystic fibrosis newborn screening panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen CFTR Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CFTR: |
| fr-FR | French (France) | CFTR gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CFTR, gene analisi di mutazione mirata: Synonyms: Gene CFTR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | CFTR-gen doelgerichte mutatie-analyse: Synonyms: CFTR gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CFTR análise de mutação do gene: Synonyms: Cystic fibrosis transmembrane conductance regulator; |
| ru-RU | Russian (Russian Federation) | CFTR ген исследование на мутацию: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | CFTR geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CFTR 基因 突变分析: Synonyms: ABC35; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=54083-1
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