87543-5
Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes
Active
50759-0 Beta-N-acetylhexosaminidase.A [Enzymatic activity/mass] in Leukocytes
Part Descriptions
LP14296-5 Beta-N-acetylhexosaminidase.A
Beta-hexosaminidase subunit alpha (HEXA) is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.[UniProt: P06965] Reduced or absent levels of HEXA and accumulation of GM2 gangliosides in the neuronal cells is characteristic of GM2-gangliosidosis 1 (GM2G1), and autosomal recessive lysosomal storage disease that leads to neurodegeneration and, in the infantile form, death in early childhood.[OMIM: 272800]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Beta-N-acetylhexosaminidase.A
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.22
- Last Updated
- Version 2.42 (MIN)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 87544-3 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase panel [Enzymatic activity/mass] - Leukocytes |
| 87543-5 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Beta-Hexosaminidase /Leukozyten |
| el-GR | Greek (Greece) | β-N-ακετυλοεξοζαμινιδάση.Α: Synonyms: A CCnt N β-N-ακετυλοεξοζαμινιδάση β-N-ακετυλοεξοζαμινιδάση.Α |
| es-ES | Spanish (Spain) | Beta-N-acetilhexosaminidasa.A: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Beta-N-acetilhexosaminidasa.A: |
| et-EE | Estonian (Estonia) | Beeta-N-atsetüülheksosaminidaas.A: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
| fr-BE | French (Belgium) | Béta-N-acétylhexosaminidase.A: |
| fr-FR | French (France) | Bêta N-hexosaminidase A: |
| fr-CA | French (Canada) | Bêta-N-acétylhexosaminidase.A: |
| it-IT | Italian (Italy) | Beta-N-acetilesosaminidasi.A: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | bèta-N-acetylhexosaminidase.A: Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A witte bloedcellen |
| pt-BR | Portuguese (Brazil) | Beta-N-acetilhexosaminidase A: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бета-N-Ацетилгексозаминидаза.А: Synonyms: Каталитическое содержание Количественный Точка во времени; |
| tr-TR | Turkish (Turkey) | Beta-N-asetilhekzosaminidaz.A: Synonyms: WBC |
| zh-CN | Chinese (China) | Beta-N-乙酰己糖胺酶.A: Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mg{protein} | Example UCUM Units |
24075-4 Beta-N-acetylhexosaminidase [Enzymatic activity/mass] in Leukocytes
Part Descriptions
LP14022-5 Beta-N-acetylhexosaminidase
An enzyme hydrolyzing terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Hexosaminidase A cleaves GM2, GA2, globosides, and hexosamine oligosaccharides. Hexosaminidase B cleaves all the above substrates except GM2. Deficiency of Hexosaminidase A causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease.
Source: National Library of Medicine, MeSH 2006
LP14022-5 Beta-N-acetylhexosaminidase
Beta-N-acetylhexosaminidase is also known as hexosaminidase and has two forms, A and B. Hexosaminidase B is used to screen for Tay-Sachs disease.
Source: Regenstrief Institute
Fully-Specified Name
- Component
- Beta-N-acetylhexosaminidase
- Property
- CCnt
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0o
- Last Updated
- Version 2.73 (MIN)
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 7615
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 87544-3 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase panel [Enzymatic activity/mass] - Leukocytes |
| 87543-5 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | β-N-ακετυλοεξοζαμινιδάση: Synonyms: CCnt |
| es-MX | Spanish (Mexico) | Beta-N-acetilhexosaminidasa: |
| es-ES | Spanish (Spain) | Beta-N-acetilhexosaminidasa: Synonyms: Cuantitativo |
| es-AR | Spanish (Argentina) | beta-N-acetilhexosaminidasa: |
| et-EE | Estonian (Estonia) | Beeta-N-atsetüülheksosaminidaas: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
| fr-FR | French (France) | Bêta N-hexosaminidase: |
| fr-BE | French (Belgium) | Béta-N-acétylhexosaminidase: |
| fr-CA | French (Canada) | Bêta-N-acétylhexosaminidase: |
| it-IT | Italian (Italy) | Beta-N-acetilesosaminidasi: Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio) |
| ko-KR | Korean (Korea, Republic Of) | 베타-N-아세틸헥소스아미니다아제: |
| nl-NL | Dutch (Netherlands) | bèta-N-acetylhexosaminidase: Synonyms: Beta-N-acetylhexosaminidase witte bloedcellen |
| pt-BR | Portuguese (Brazil) | Beta N-acetilhexosaminidase: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бета-N-ацетилгексозаминидаза: Synonyms: Каталитическое содержание Количественный Точка во времени; |
| tr-TR | Turkish (Turkey) | Beta-N-asetilhekzosaminidaz: Synonyms: WBC |
| zh-CN | Chinese (China) | Beta-N-乙酰己糖胺酶: Synonyms: B Beta-N-乙酰氨基己糖苷酶; |
Example Units
| Unit | Source |
|---|---|
| nmol/h/mg{protein} | Example UCUM Units |
| nmol/hr/mg of protein | eCHN |
23825-3 Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total in Leukocytes
Part Descriptions
LP14296-5 Beta-N-acetylhexosaminidase.A
Beta-hexosaminidase subunit alpha (HEXA) is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues.[UniProt: P06965] Reduced or absent levels of HEXA and accumulation of GM2 gangliosides in the neuronal cells is characteristic of GM2-gangliosidosis 1 (GM2G1), and autosomal recessive lysosomal storage disease that leads to neurodegeneration and, in the infantile form, death in early childhood.[OMIM: 272800]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Beta-N-acetylhexosaminidase.A/Beta-N-acetylhexosaminidase.total
- Property
- CFr
- Time
- Pt
- System
- WBC
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 1.0n
- Last Updated
- Version 2.73 (MIN)
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 7850
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 87544-3 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase panel [Enzymatic activity/mass] - Leukocytes |
| 87543-5 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | β-N-ακετυλοεξοζαμινιδάση.Α/β-N-ακετυλοεξοζαμινιδάση.ολική: Synonyms: CFr |
| es-ES | Spanish (Spain) | Beta-N-acetilhexosaminidasa.A/Beta-n-acetilhexosaminidasa.total: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Beta-N-acetilhexosaminidasa.A / Beta-N-acetilhexosaminidasa.total: |
| es-AR | Spanish (Argentina) | beta-N-acetilhexosaminidasa.A/beta-N-acetilhexosaminidasa.total: |
| et-EE | Estonian (Estonia) | Beeta-N-atsetüülheksosaminidaas.A/beeta-n-atsetüülheksosaminidaas.üld: Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid |
| fr-BE | French (Belgium) | Béta-N-acétylhexosaminidase.A/Bèta-N-acétylhexosaminidase.totale: |
| fr-FR | French (France) | Bêta N-hexosaminidase A/Bêta N-hexosaminidases totales: |
| fr-CA | French (Canada) | Bêta-N-acétylhexosaminidase.A/Bêta-N-acétylhexosaminidase.totale: |
| it-IT | Italian (Italy) | Beta-N-acetilesosaminidasi.A/Beta-N-acetilesosaminidasi.totale: Synonyms: Chimica Frazione Catalitica Globuli bianchi Punto nel tempo (episodio) |
| ko-KR | Korean (Korea, Republic Of) | 베타-N-아세틸헥소스아미니다아제.A/총베타-N-아세틸헥소스아미니다아제: |
| nl-NL | Dutch (Netherlands) | bèta-N-acetylhexosaminidase.A/bèta-n-acetylhexoaminidase.totaal: Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A witte bloedcellen |
| pt-BR | Portuguese (Brazil) | Beta-N-acetilhexosaminidase.A/Beta-N-acetilhexosaminidase.total: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Бета-N-Ацетилгексозаминидаза.А/Бета-n-ацетилгексозаминидаза.общий: Synonyms: Каталитическая фракция Количественный Точка во времени; |
| tr-TR | Turkish (Turkey) | Beta-N-asetilhekzosaminidaz.A/Beta-n-asetilhekzosaminidaz.total: Synonyms: WBC |
| uk-UA | Ukrainian (Ukraine) | Бета-N-ацетилгексозамінідаза.А/Бета-N-ацетилгексозамінідаза.загальна: Synonyms: B; |
| zh-CN | Chinese (China) | Beta-N-乙酰己糖胺酶.A/Beta-n-乙酰氨基已糖苷酶.总计: Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
| % | REGENSTRIEF |
51773-0 HEXA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Part Descriptions
LP30742-8 HEXA gene
The HEXA gene is located on chromosome 15q23 and encodes the alpha subunit of beta-hexosaminidase, which is responsible for the degradation of GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively. Mutations in both HEXA and HEXB lead to an accumulation of GM2 gangliosides in neurons result in neurodegenerative disorders termed the GM2 gangliosidoses. HEXA mutations are associated with Tay-Sachs disease (GM2-gangliosidosis type I), and HEXB mutations are associated with Sandhoff disease (GM2-gangliosidosis type II). In their classic forms, Tay-Sachs and Sandhoff diseases are clinically indistinguishable and are characterized by the onset of progressive neurodegeneration in infancy, followed by paralysis, dementia, and death by age 3. [OMIM: 272800]
Source: Regenstrief LOINC
, OMIM: 272800
LP30742-8 HEXA gene
The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24.1. This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] [NCBI Gene ID:3073]
Source: National Center for Biotechnology Information (NCBI) Gene
Observation Required in Panel
Reflex
Fully-Specified Name
- Component
- HEXA gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 11084
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 87543-5 | Beta-N-acetylhexosaminidase.A and beta-N-acetylhexosaminidase with reflex to HEXA gene panel [Enzymatic activity/mass] - Leukocytes |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο HEXA στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο HEXA Εύρεση |
| es-ES | Spanish (Spain) | Gen HEXA Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen HEXA: |
| fr-FR | French (France) | HEXA gène mutation cible trouvée: |
| it-IT | Italian (Italy) | HEXA, gene analisi di mutazione mirata: Synonyms: Gene HEXA Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | HEXA-gen doelgerichte mutatie-analyse: Synonyms: HEXA gen molgen targeted |
| pt-BR | Portuguese (Brazil) | HEXA análise de mutação genética: Synonyms: Tay-Sachs disease; |
| ru-RU | Russian (Russian Federation) | HEXA ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | HEXA geni Mutasyon analizi: |
| zh-CN | Chinese (China) | HEXA 基因 突变分析: Synonyms: beta-N-乙酰己糖胺酶基因; |