92740-0
Oxysterols panel - Serum or Plasma
Active
92755-8 Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in Serum or Plasma
Part Descriptions
LP310337-3 Cholestane-3-beta, 5-alpha, 6-beta triol
The oxidation products of cholesterol, particularly cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, have proven to be sensitive and specific biomarkers for early detection of Niemann Pick type C (NPC) disease. NPC disease is a rare genetic disorder that results in the accumulation of cholesterol and other lipids internally. Patients often present in childhoold with hepatospenomegaly and central nervous system degeneration, although the presentation is broad and adult-onset psychiatric or visceral disease can occur. Mutations in the NPC1 or NPC2 gene are responsible, with the vast majority ocurring in NPC1. Prior to cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, filipin staining of skin biopsy material was the assay of choice, although it was cumbersome, insensitive, and not widely avaialble PMID: 21518695.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Cholestane-3-beta, 5-alpha, 6-beta triol
- Property
- SCnc
- Time
- Pt
- System
- Ser/Plas
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
92743-4 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma |
92740-0 | Oxysterols panel - Serum or Plasma |
Member of these Groups Get Info
LOINC Group | Group Name |
---|---|
LG50880-0 | Cholestane-3-beta, 5-alpha, 6-beta triol| |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Χολεσταν-3β, 5α, 6β-τριόλη: Synonyms: SCnc Χολεσταν-3β, 5α, 6β-τριόλη |
es-MX | Spanish (Mexico) | Colestano-3-beta, 5-alfa, 6-beta triol: |
es-ES | Spanish (Spain) | Colestano-3-beta, 5-alfa, 6-beta triol: Synonyms: Cuantitativo |
fr-FR | French (France) | Choléstane-3-bêta, 5-alpha, 6-bêta triol: |
it-IT | Italian (Italy) | Colestano-3-beta, 5-alfa, 6-beta triol: Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma |
zh-CN | Chinese (China) | 胆甾烷-3-beta, 5-alpha, 6-beta 三醇: Synonyms: Ⅲ B III α β 三 克分子浓度; |
Example Units
Unit | Source |
---|---|
nmol/mL | Example UCUM Units |
92764-0 7-Ketocholesterol [Moles/volume] in Serum or Plasma
Part Descriptions
LP310354-8 7-Ketocholesterol
The oxidation products of cholesterol, particularly cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, have proven to be sensitive and specific biomarkers for early detection of Niemann Pick type C (NPC) disease. NPC disease is a rare genetic disorder that results in the accumulation of cholesterol and other lipids internally. Patients often present in childhoold with hepatospenomegaly and central nervous system degeneration, although the presentation is broad and adult-onset psychiatric or visceral disease can occur. Mutations in the NPC1 or NPC2 gene are responsible, with the vast majority ocurring in NPC1. Prior to cholestane-3beta,5alpha,6beta-triol and 7-ketocholesterol, filipin staining of skin biopsy material was the assay of choice, although it was cumbersome, insensitive, and not widely avaialble PMID: 21518695.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 7-Ketocholesterol
- Property
- SCnc
- Time
- Pt
- System
- Ser/Plas
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
92740-0 | Oxysterols panel - Serum or Plasma |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | 7-κετοχοληστερόλη: Synonyms: 7-κετοχοληστερόλη SCnc |
es-MX | Spanish (Mexico) | 7-cetocolesterol: |
es-ES | Spanish (Spain) | 7-Ketocolesterol: Synonyms: Cuantitativo |
fr-FR | French (France) | 7-cétocholesterol: |
it-IT | Italian (Italy) | 7-Chetocolesterolo: Synonyms: Chimica Concentrazione di Sostanza Plasma Punto nel tempo (episodio) Siero Siero o Plasma |
zh-CN | Chinese (China) | 7-酮基胆固醇: Synonyms: 7-酮胆固醇; |
Example Units
Unit | Source |
---|---|
nmol/mL | Example UCUM Units |
92747-5 Lyso-sphingomyelin [Moles/volume] in Serum or Plasma
Part Descriptions
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
- Ser/Plas
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
92743-4 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - Serum or Plasma |
92740-0 | Oxysterols panel - Serum or Plasma |
Member of these Groups Get Info
LOINC Group | Group Name |
---|---|
LG50878-4 | Lyso-sphingomyelin| |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Λυσοσφιγγομυελίνη: Synonyms: SCnc Λυσοσφιγγομυελίνη Σφιγγομυελινάση |
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 Plasma Punto nel tempo (episodio) Siero Siero o Plasma |
zh-CN | Chinese (China) | 溶血鞘磷脂: Synonyms: 克分子浓度; |
Example Units
Unit | Source |
---|---|
nmol/mL | Example UCUM Units |