LP64452-3
CMT demyelinating gene
Active
Description
Includes PMP22 duplication and deletion testing and sequence analysis of PMP22, Connexin32, MPZ, EGR2, GDAP1, PRX, and LITAF/SIMPLE Source: Regenstrief Institute
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- CMT demyelinating gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-06-21
- Construct for LOINC Short Name
- CMT1 gene
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=LP64452-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CMT 脱髓鞘基因 Synonyms: CMT 脱髓鞘型基因; |
| es-ES | Spanish (Spain) | Gen CMT desmielinizado |
| it-IT | Italian (Italy) | CMT, gene demielinizzante Synonyms: Gene demielinizzante CMT |
| tr-TR | Turkish (Turkey) | CMT demiyelinize edici geni |
| ru-RU | Russian (Russian Federation) | CMT демиелинизации ген |
| nl-NL | Dutch (Netherlands) | CMT demyeliniserend gen |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright