80980-6

Frataxin [Mass/volume] in DBS

Active

Part Description

LP207802-2 Frataxin
The concentration of the mitochondrial protein frataxin can be used to both diagnose and monitor treatment for patients with Friedreich ataxia (FA). Decreased frataxin protein levels are diagnostic of FA and can be utilized for monitoring known patients. FA is an autosomal recessive disease affecting approximately 1:50,000 Caucasians. The disease is clinically characterized by progressive spasticity, ataxia, dysarthria, absent lower limb reflexes, sensory loss, and scoliosis. Hypertrophic cardiomyopathy is present in approximately two-thirds of patients with FA and the most frequent cause of premature death. FA is caused by mutations in the FXN gene encoding frataxin. Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: Frataxin:MCnc:Pt:Bld.dot:Qn:
Long Common Name: Frataxin [Mass/volume] in DBS
Short Name: Frataxin DBS-mCnc
Display Name: Frataxin (DBS) [Mass/Vol]
Consumer Name Alpha Get Info: Frataxin, Dried blood spot

Part Model Get Info

Component
Frataxin
LP207802-2
- Analyte
  Frataxin
  LP207802-2
  - Component Numerator
    Frataxin
    LP207802-2
    - Component Numerator Core
      Frataxin
      LP207802-2
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
MCnc
LP6827-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld.dot
LP21304-8
- System Core
  Bld.dot
  LP21304-8
- Super System
  NULL
Scale
Qn
LP7753-9
Method
NULL

Basic Attributes

Class: CHEM
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.61 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Frataxin:Hmotnostní koncentrace:Časový bod:Suchá krevní kapka (DBS):Kvantitativní:
el-GR	Greek (Greece)	Φραταξίνη:MCnc:Pt:Bld.dot:Qn: Synonyms: Bld.dot CHEM MCnc Pt Qn Αίμα Φραταξίνη
es-ES	Spanish (Spain)	Frataxina:Concentración de masa:Punto temporal:gota de sangre (papel de filtro):Qn: Synonyms: Cuantitativo
es-MX	Spanish (Mexico)	Frataxina:Concentración de masa:Punto temporal:DBS:Cuantitativo:
fr-FR	French (France)	Frataxine:Masse/Volume:Ponctuel:Sang buvard:Numérique:
it-IT	Italian (Italy)	Fratassina:MCnc:Pt:Sangue.su carta da filtro:Qn: Synonyms: Chimica Concentrazione di Massa Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NL	Dutch (Netherlands)	frataxine:massa/volume:moment:gedroogde bloedspot:kwantitatief:
zh-CN	Chinese (China)	线粒体型共济失调蛋白:质量浓度:时间点:全血.斑点:定量型: Synonyms: 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类可用数量表示的;定量性;数值型;数量型;连续数值型标尺时刻;随机;随意;瞬间水平;浓度;质量浓度(单位体积) 血;血液铁硫簇相关蛋白;Frataxin 蛋白;FXN;线粒体型共济失调蛋白 X25;Frataxin

Example Units

Unit	Source
ng/mL	Example UCUM Units

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=80980-6

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 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.