92745-9
Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS
Active
92757-4 Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS
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
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Chol-3b,5a,6b-triol DBS-sCnc
- Display Name
- Cholestane-3-beta, 5-alpha, 6-beta triol (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Cholestane-3-beta, 5-alpha, 6-beta triol, 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-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 Punto nel tempo (episodio) Sangue Spot sangue secco |
| 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 |
92757-4 Cholestane-3-beta, 5-alpha, 6-beta triol [Moles/volume] in DBS
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
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Chol-3b,5a,6b-triol DBS-sCnc
- Display Name
- Cholestane-3-beta, 5-alpha, 6-beta triol (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Cholestane-3-beta, 5-alpha, 6-beta triol, 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-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 Punto nel tempo (episodio) Sangue Spot sangue secco |
| 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 |
92749-1 Lyso-sphingomyelin [Moles/volume] in DBS
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
- 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 |
92752-5 Glucopsychosine [Moles/volume] in DBS
Part Descriptions
LP310332-4 Glucopsychosine
Glucopsychosine (also called glucosylsphingosine) is a biomarker for selective deficiency of the enzyme, beta-glucocerebrosidase (beta-glucosidase), the cause of the autosomal recessive lysosomal storage disorder Gaucher disease. There are 3 types of Gaucher disease, all of which include hepatosplenomegaly and hematological abnormalities. Type I, the most common, also includes coagulation abnormalities, bone and lung involvement, whereas type II is rapidly progressive and includes CNS involvement. Type III is more slowly progressive. Laboratory confirmation can include the demonstration of reduced beta-glucosidase activity, molecular analysis of the GBA gene, and elevated blood glucopsychosine. Measurement of glucopsychosine may also help in assessing response to enzyme replacement therapy PMID: 27441734.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Glucopsychosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Glucopsychosine DBS-sCnc
- Display Name
- Glucopsychosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glucopsychosine, 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 |
|---|---|
| 92745-9 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glucopsicosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glucopsicosina: |
| fr-FR | French (France) | Glucosylsphingosine: |
| it-IT | Italian (Italy) | Glucopsicosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| pl-PL | Polish (Poland) | Glukozylosfingozyna: Synonyms: Glukozylosfingozyna |
| zh-CN | Chinese (China) | 葡萄糖鞘氨醇半乳糖苷: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |
92763-2 7-Alpha hydroxy-4-cholesten-3-one [Moles/volume] in DBS
Part Descriptions
LP310330-8 7-Alpha hydroxy-4-cholesten-3-one
The detection of plasma or blood ketosterol bile acid precursors, specifically 7alpha-hydroxy-4-cholesten-3-one, 7alpha,12alpha-dihydroxy-4-cholesten-3-one and 7alpha,12alpha-dihydroxy-5beta-cholestan-3-one, is sensitive for the diagnosis of cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis that causes neurodegeneration and premature death. CTX is associated with a deficiency in the mitochondria enzyme, sterol 27-hydroxylase (CYP27A1), which converts cholesterol to bile acids. Symptoms include diarrhea and juvenile cataracts in children, progressing to tendon and cerebral xanthomas with neurological deterioration and death. Because there is an effective therapy (oral replacement of chenodeoxycholic acid, the main bile acid deficient in CTX), it is critical to diagnose as early as possible. Prior to the more sensitive ketosterol bile acid precursors, diagnosis had depended on measurement of elevated 5-alpha-cholestanol PMID: 24769274.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 7-Alpha hydroxy-4-cholesten-3-one
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 7a-OH-4-chol-3-one DBS-sCnc
- Display Name
- 7-Alpha hydroxy-4-cholesten-3-one (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 7-Alpha hydroxy-4-cholesten-3-one, 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 |
|---|---|
| 92739-2 | 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - DBS |
| 92745-9 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | 7-alfa hidroxi-4-colesten-3-ona: |
| es-ES | Spanish (Spain) | 7-Alfa hidroxi-4-colesten-3-ona: Synonyms: Cuantitativo |
| fr-FR | French (France) | 7-alpha hydroxy-4-cholestène-3-one: |
| it-IT | Italian (Italy) | 7-Alfa-idrossi-4-colestene-3-one: Synonyms: 7α-idrossi-4-colestene-3-one Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| zh-CN | Chinese (China) | 7-Alpha 羟基-4-胆甾烯-3-酮: Synonyms: Ⅲ 7-α 羟基-4-胆甾烯-3-酮; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |
92760-8 7-Alpha,12-alpha dihydroxycholest-4-en-3-one [Moles/volume] in DBS
Part Descriptions
LP310327-4 7-Alpha,12-alpha dihydroxycholest-4-en-3-one
The detection of plasma or blood ketosterol bile acid precursors, specifically 7alpha-hydroxy-4-cholesten-3-one, 7alpha,12alpha-dihydroxy-4-cholesten-3-one and 7alpha,12alpha-dihydroxy-5beta-cholestan-3-one, is sensitive for the diagnosis of cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive disorder of bile acid synthesis that causes neurodegeneration and premature death. CTX is associated with a deficiency in the mitochondria enzyme, sterol 27-hydroxylase (CYP27A1), which converts cholesterol to bile acids. Symptoms include diarrhea and juvenile cataracts in children, progressing to tendon and cerebral xanthomas with neurological deterioration and death. Because there is an effective therapy (oral replacement of chenodeoxycholic acid, the main bile acid deficient in CTX), it is critical to diagnose as early as possible. Prior to the more sensitive ketosterol bile acid precursors, diagnosis had depended on measurement of elevated 5-alpha-cholestanol PMID: 24769274.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 7-Alpha,12-alpha dihydroxycholest-4-en-3-one
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 7a12aDiOHchol4en3one DBS-sCnc
- Display Name
- 7-Alpha,12-alpha dihydroxycholest-4-en-3-one (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 7-Alpha,12-alpha dihydroxycholest-4-en-3-one, 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 |
|---|---|
| 92739-2 | 7-Alpha,12-alpha dihydroxycholest-4-en-3-one and 7-Alpha hydroxy-4-cholesten-3-one panel - DBS |
| 92745-9 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona: |
| es-ES | Spanish (Spain) | 7-alfa, 12-alfa dihidroxicolest-4-en-3-ona: Synonyms: Cuantitativo |
| fr-FR | French (France) | 7-alpha,12-alpha dihydroxycholest-4-en-3-one: |
| it-IT | Italian (Italy) | 7-Alfa,12-alfa diidrossicolest-4-en-3-one & 7-Alfa idrossi-4-colesten-3-one, panel: Synonyms: Chimica Concentrazione di Sostanza Panel 7-Alfa,12-alfa diidrossicolest-4-en-3-one e 7-Alfa idrossi-4-colesten-3-one Punto nel tempo (episodio) Sangue Spot sangue secco |
| zh-CN | Chinese (China) | 7-Alpha,12-alpha 二羟基胆甾-4-烯-3-酮: Synonyms: Ⅲ 7,12-二羟基-4-胆甾烯-3-酮; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |
92754-1 Globotriaosylsphingosine [Moles/volume] in DBS
Part Descriptions
LP268082-7 Globotriaosylsphingosine
Globotriaosylsphingosine (lyso-Gb3) is the deacylated, cationic, amphiphilic glycolipid product of globotriaosylceramide (Gb3). Gb3, lyso-Gb3, and an un-described additional metabolite of Gb3 are markedly increased in the plasma of male patients with classic Fabry disease. Fabry disease is caused by a deficiency of alpha-galactosidase A due to a mutation in the alpha-galactosidase A gene on the X chromosome. It leads to renal insufficiency, cardiac hypertrophy, and neuropathy that is thought to be due to the accumulation of Gb3 in the endothelium. However, treatment of Fabry disease with enzyme therapy decreases the Gb3 in the endothelium, but does not eliminate disease symptoms to the degree expected. In addition, plasma and urinary levels of Gb3 do not correlate with disease severity which suggests little or no correlation of the plasma level of Gb3 and the cause of disease. The plasma levels that do correlate with symptoms of disease are lyso-Gb3. Lyso-Gb3 is present in the plasma of Fabry patients in much higher levels than Gb3. It is believed to inhibit the activity of alpha-galactosidase A, promote the storage of Gb3, and induce the proliferation of smooth muscle cells in vitro. In Fabry disease, there is known accelerated hypertrophy of the walls of the radial artery and a thickening of the intima media of the common carotid artery as a result of smooth muscle cell proliferation. PMID: 18287059
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Globotriaosylsphingosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- Globotriaosylsphingosine DBS-sCnc
- Display Name
- Globotriaosylsphingosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Globotriaosylsphingosine, 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 |
|---|---|
| 92745-9 | Hepatosplenomegaly due to lysosomal storage disorders screening panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Globotriaosilsfingosina: |
| es-ES | Spanish (Spain) | Globotriaosilesfingosina: Synonyms: Cuantitativo |
| fr-FR | French (France) | Globotriaosylsphingosine: |
| it-IT | Italian (Italy) | Globotriaosylsphingosine: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| zh-CN | Chinese (China) | 三聚己糖神经鞘氨醇: Synonyms: 三聚己糖鞘氨醇; |
Example Units
| Unit | Source |
|---|---|
| nmol/mL | Example UCUM Units |