81250-3

Discrete genetic variant panel

Trial

Status Information

Status: TRIAL

Term Description

This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.

Panel Hierarchy

Details for each LOINC in Panel LHC-Forms

LOINC	Name	R/O/C	Cardinality	Example UCUM Units
81250-3	Discrete genetic variant panel		0..n
Indent83005-9	Variant category
Indent81252-9	Discrete genetic variant	C	0..1
Indent48018-6	Gene studied [ID]	C	0..1
Indent51958-7	Transcript reference sequence [ID]	C	0..1
Indent48004-6	DNA change (c.HGVS)	C	0..1
Indent48005-3	Amino acid change (pHGVS)	C	0..1
Indent48019-4	DNA change type	O	0..1
Indent48006-1	Amino acid change [Type]	O	0..1
Indent48013-7	Genomic reference sequence [ID]	C	0..1
Indent81290-9	Genomic DNA change (gHGVS)	C
Indent69547-8	Genomic ref allele [ID]	C	0..1
Indent81254-5	Genomic allele start-end	C	0..1
Indent69551-0	Genomic alt allele [ID]	C	0..1
Indent84414-2	Haplotype name	O
Indent81255-2	dbSNP [ID]	O	0..1
Indent81257-8	CIGAR [ID]	O	0..1
Indent48001-2	Cytogenetic (chromosome) location	O	0..1
Indent48002-0	Genomic source class [Type]	O	0..1
Indent81304-8	Variant analysis method [Type]	O
Indent53037-8	Genetic variation clinical significance [Imp]	O	0..1
Indent69548-6	Genetic variant assessment	O
Indent81259-4	Associated phenotype	O	0..1
Indent53034-5	Allelic state	C	0..1
Indent81258-6	Sample variant allelic frequency [NFr]	O	0..1	%
Indent82121-5	Allelic read depth	O	0..1	{#}
Indent82120-7	Allelic phase	O	0..1
Indent82309-6	Basis for allelic phase [Type]	O

Question Cardinality

0..n

LOINC Names Get Info

Fully-Specified Name: Simple variant panel:-:Pt:^Patient:-:
Long Common Name: Discrete genetic variant panel
Short Name: Simple var pnl
Display Name: Simple variant panel
Consumer Name Alpha Get Info: Simple variant panel

Part Model Get Info

Component
Simple variant panel
LP212293-7
- Analyte
  Simple variant panel
  LP212293-7
  - Component Numerator
    Simple variant panel
    LP212293-7
    - Component Numerator Core
      Simple variant panel
      LP212293-7
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
-
LP6769-6
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
^Patient
LP310005-6
- System Core
  NULL
- Super System
  Patient
  LP6985-8
Scale
-
LP7747-1
Method
NULL

Basic Attributes

Class: PANEL.MOLPATH
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.58 (MIN)
Order vs. Observation: Order
Panel Type: Panel

Member of these Panels

LOINC	Long Common Name
81247-9	Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Varianta jednoduchá panel:-:Časový bod:^Pacient:-:
el-GR	Greek (Greece)	Πίνακας απλών παραλλαγών:-:Pt:^Ασθενής:-: Synonyms: - MOLPATH PANEL.MOLPATH Pt Απλή παραλλαγή Ασθενής Πίνακας απλών παραλλαγών
es-ES	Spanish (Spain)	Panel de variante simple:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
es-MX	Spanish (Mexico)	Panel de variante simple:-:Punto temporal:^ Paciente:-:
fr-FR	French (France)	Variant simple panel:-:Ponctuel:^patient:-:
it-IT	Italian (Italy)	Variante semplice panel:-:Pt:^Paziente:-: Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN	Chinese (China)	简单变异组套:-:时间点:^患者:-: Synonyms: 分子病理学;分子病理学试验医嘱套餐医嘱套餐类医嘱套餐组医嘱组医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学医嘱组合医嘱组合类医嘱组套医嘱组套类医嘱组类医疗服务对象;客户;病人;病患;病号;超系统 - 病人多重;多重型;多重标尺类型;多重精度类型套餐套餐医嘱套餐医嘱组套餐医嘱组类实验室医嘱套餐实验室医嘱套餐类实验室医嘱组实验室医嘱组合类实验室医嘱组套实验室医嘱组套类实验室套餐医嘱组实验室套餐医嘱组类实验室检验项目医嘱组合类实验室检验项目组合类时刻;随机;随意;瞬间检验医嘱组合类检验项目医嘱组合类检验项目组合类简单变异组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）组套简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）组组合组合医嘱组合类组套

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81250-3
Questionnaire definition: https://fhir.loinc.org/Questionnaire/?url=http://loinc.org/q/81250-3

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.