92749-1
Lyso-sphingomyelin [Moles/volume] in DBS
Active
Part Description
LP310425-6 Lyso-sphingomyelin
Lyso-sphingomyelin (LSM, sphingosylphosphorylcholine) is a biomarker for Niemann-Pick disease types A, B and C, genetically distinct metabolic disorders. Niemann-Pick types A/B and C share clinical features including hepatospenomegaly and specific neurological symptoms. Types A and B are caused by mutations in the SMPD1 gene (or acid sphingomyelinase), while type C is caused by mutations in the NPC1 or NPC2 genes. Both type A/B and C Niemann-Pick show increased plasma levels of LSM and/or its analog Lyso-sphingomyelin509 (LSM509), and it has been suggested that Niemann-Pick A and B can be biochemically distinguished from C by comparing plasma levels of LSM and LSM509. Niemann-Pick type C can also be specifically diagnosed by the levels of oxysterols in blood or plasma PMID: 28259515.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Lyso-sphingomyelin
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- LSM DBS-sCnc
- Display Name
- Lyso-sphingomyelin (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Lyso-sphingomyelin, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
92741-8 | Cholestane-3-beta, 5-alpha, 6-beta triol and Lyso-sphingomyelin panel - DBS |
92745-9 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Lisoesfingomielina: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | Liso-esfingomielina: |
fr-FR | French (France) | Lyso-sphingomyéline: |
it-IT | Italian (Italy) | Liso-sfingomielina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
zh-CN | Chinese (China) | 溶血鞘磷脂: Synonyms: 克分子浓度; |
Example Units
Unit | Source |
---|---|
nmol/mL | Example UCUM Units |
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=92749-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright