Version 2.78

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

Additional Names

Short Name
Hexosaminidase A WBC-cCnt
Display Name
Beta-N-acetylhexosaminidase.A (WBC) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Beta-N-acetylhexosaminidase.A, White blood cells

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.42
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
es-ES Spanish (Spain) Beta-N-acetilhexosaminidasa.A:Contenido catalítico:Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Beta-N-acetilhexosaminidasa.A:Contenido catalítico:Punto temporal:células blancas de la sangre:Cuantitativo:
et-EE Estonian (Estonia) Beeta-N-atsetüülheksosaminidaas.A:CCnt:Pt:WBC:Qn:
Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid
fr-FR French (France) Bêta N-hexosaminidase A:Catalytique/Masse:Ponctuel:Leucocytes:Numérique:
fr-BE French (Belgium) Béta-N-acétylhexosaminidase.A:Contenu catalytique:Temps ponctuel:Leucocytes:Quantitatif:
fr-CA French (Canada) Bêta-N-acétylhexosaminidase.A:Contenu catalytique:Temps ponctuel:Leucocytes:Quantitatif:
it-IT Italian (Italy) Beta-N-acetilesosaminidasi.A:CCnt:Pt:WBC:Qn:
Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) bèta-N-acetylhexosaminidase.A:enzymatische activiteit/massa:moment:leukocyten:kwantitatief:
Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A witte bloedcellen
pt-BR Portuguese (Brazil) Beta-N-acetilhexosaminidase A:CCnt:Pt:Leucoc:Qn:
Synonyms: ; Hexosaminidase A; Sandoff disease; Hex A; B-NAH; GM2-gangliosidosis; Catalytic Content; Point in time; Random; Leukocytes; White blood cells; Leucocs; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU Russian (Russian Federation) Бета-N-Ацетилгексозаминидаза.А:КаталСод:ТчкВрм:Лейкоциты:Колич:
Synonyms: Каталитическое содержание Количественный Точка во времени;Момент
tr-TR Turkish (Turkey) Beta-N-asetilhekzosaminidaz.A:Ktlİçrk:Zmlı:Lökosit:Kant:
Synonyms: WBC
zh-CN Chinese (China) Beta-N-乙酰己糖胺酶.A:催化含量:时间点:白细胞:定量型:
Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A;Beta-N-乙酰氨基己糖苷酶 A;Beta-N-乙酰氨基己糖苷酶.A;Hex A;Sandoff 氏病;Sandoff 病;β-N-乙酰己糖胺酶 A;β-N-乙酰己糖胺酶.A;β-N-乙酰氨基己糖苷酶 A;β-N-乙酰氨基己糖苷酶.A;己糖胺酶 A;己糖胺酶.A;氨基己糖苷酶 A;氨基己糖苷酶.A Beta-N-乙酰氨基己糖苷酶;B-NAH;GM2-神经节苷脂沉积症;GM2-神经节苷脂贮积病;β-N-乙酰己糖胺酶;β-N-乙酰氨基己糖苷酶;己糖胺酶;氨基己糖苷酶 N 型 WBC;WBCs;白血球;白血细胞 β 催化含量(单位质量);单位质量的酶单位数 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 贝塔

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

Additional Names

Short Name
B-NAH WBC-cCnt
Display Name
Beta-N-acetylhexosaminidase (WBC) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Beta-N-acetylhexosaminidase, White blood cells

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 1.0o
Last Updated
Version 2.73
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
es-ES Spanish (Spain) Beta-N-acetilhexosaminidasa:Contenido catalítico:Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-AR Spanish (Argentina) beta-N-acetilhexosaminidasa:contenido catalítico:punto en el tiempo:leucocito:cuantitativo:
es-MX Spanish (Mexico) Beta-N-acetilhexosaminidasa:Contenido catalítico:Punto temporal:células blancas de la sangre:Cuantitativo:
et-EE Estonian (Estonia) Beeta-N-atsetüülheksosaminidaas:CCnt:Pt:WBC:Qn:
Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid
fr-CA French (Canada) Bêta-N-acétylhexosaminidase:Contenu catalytique:Temps ponctuel:Leucocytes:Quantitatif:
fr-FR French (France) Bêta N-hexosaminidase:Catalytique/Masse:Ponctuel:Leucocytes:Numérique:
fr-BE French (Belgium) Béta-N-acétylhexosaminidase:Contenu catalytique:Temps ponctuel:Leucocytes:Quantitatif:
it-IT Italian (Italy) Beta-N-acetilesosaminidasi:CCnt:Pt:WBC:Qn:
Synonyms: Chimica Contenuto Catalitico Globuli bianchi Punto nel tempo (episodio)
ko-KR Korean (Korea, Republic Of) 베타-N-아세틸헥소스아미니다아제:촉매구성:검사시점:백혈구:정량:
nl-NL Dutch (Netherlands) bèta-N-acetylhexosaminidase:enzymatische activiteit/massa:moment:leukocyten:kwantitatief:
Synonyms: Beta-N-acetylhexosaminidase witte bloedcellen
pt-BR Portuguese (Brazil) Beta N-acetilhexosaminidase:CCnt:Pt:Leucoc:Qn:
Synonyms: ; B-NAH; GM2-gangliosidosis; Hexosaminidase; Catalytic Content; Point in time; Random; Leukocytes; White blood cells; Leucocs; Quantitative; QNT; Quant; Quan; B; Chemistry
ru-RU Russian (Russian Federation) Бета-N-ацетилгексозаминидаза:КаталСод:ТчкВрм:Лейкоциты:Колич:
Synonyms: Каталитическое содержание Количественный Точка во времени;Момент
tr-TR Turkish (Turkey) Beta-N-asetilhekzosaminidaz:Ktlİçrk:Zmlı:Lökosit:Kant:
Synonyms: WBC
zh-CN Chinese (China) Beta-N-乙酰己糖胺酶:催化含量:时间点:白细胞:定量型:
Synonyms: B Beta-N-乙酰氨基己糖苷酶;B-NAH;GM2-神经节苷脂沉积症;GM2-神经节苷脂贮积病;β-N-乙酰己糖胺酶;β-N-乙酰氨基己糖苷酶;己糖胺酶;氨基己糖苷酶 N 型 WBC;WBCs;白血球;白血细胞 β 催化含量(单位质量);单位质量的酶单位数 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 贝塔

Example Units

Unit Source
nmol/h/mg{protein} Example UCUM Units
nmol/mg prot/H REGENSTRIEF

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

Additional Names

Short Name
Hexosaminidase A CFr WBC
Display Name
Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total (WBC) [Catalytic fraction]
Consumer Name Alpha Get Info
Beta-N-acetylhexosaminidase.A/Beta-n-acetylhexosaminidase.total, White blood cells

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 1.0n
Last Updated
Version 2.73
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
es-ES Spanish (Spain) Beta-N-acetilhexosaminidasa.A/Beta-n-acetilhexosaminidasa.total:Fracción Catalítica:Punto temporal:Células sanguineas blancas:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Beta-N-acetilhexosaminidasa.A / Beta-N-acetilhexosaminidasa.total:Fracción catalítica:Punto temporal:células blancas de la sangre:Cuantitativo:
es-AR Spanish (Argentina) beta-N-acetilhexosaminidasa.A/beta-N-acetilhexosaminidasa.total:fracción catalítica:punto en el tiempo:leucocito:cuantitativo:
et-EE Estonian (Estonia) Beeta-N-atsetüülheksosaminidaas.A/beeta-n-atsetüülheksosaminidaas.üld:CFr:Pt:WBC:Qn:
Synonyms: Juhuslik Kvantitatiivne Leukotsüüdid
fr-FR French (France) Bêta N-hexosaminidase A/Bêta N-hexosaminidases totales:Fraction catalytique:Ponctuel:Leucocytes:Numérique:
fr-BE French (Belgium) Béta-N-acétylhexosaminidase.A/Bèta-N-acétylhexosaminidase.totale:Fraction catalytique:Temps ponctuel:Leucocytes:Quantitatif:
fr-CA French (Canada) Bêta-N-acétylhexosaminidase.A/Bêta-N-acétylhexosaminidase.totale:Fraction catalytique:Temps ponctuel:Leucocytes:Quantitatif:
it-IT Italian (Italy) Beta-N-acetilesosaminidasi.A/Beta-N-acetilesosaminidasi.totale:CFr:Pt:WBC:Qn:
Synonyms: Chimica Frazione Catalitica Globuli bianchi Punto nel tempo (episodio)
ko-KR Korean (Korea, Republic Of) 베타-N-아세틸헥소스아미니다아제.A/총베타-N-아세틸헥소스아미니다아제:촉매분획:검사시점:백혈구:정량:
nl-NL Dutch (Netherlands) bèta-N-acetylhexosaminidase.A/bèta-n-acetylhexoaminidase.totaal:enzymatische fractie:moment:leukocyten:kwantitatief:
Synonyms: Beta-N-acetylhexosaminidase Beta-N-acetylhexosaminidase.A witte bloedcellen
pt-BR Portuguese (Brazil) Beta-N-acetilhexosaminidase.A/Beta-N-acetilhexosaminidase.total:CFr:Pt:Leucoc:Qn:
Synonyms: ; Hexosaminidase A; Sandoff disease; Hex A; B-NAH; GM2-gangliosidosis; Fr; Catalytic Fraction; Percent; Point in time; Random; Leukocytes; White blood cells; Leucocs; Quantitative; QNT; Quant; Quan; Tot; Totl; B; Chemistry
ru-RU Russian (Russian Federation) Бета-N-Ацетилгексозаминидаза.А/Бета-n-ацетилгексозаминидаза.общий:КаталФрак:ТчкВрм:Лейкоциты:Колич:
Synonyms: Каталитическая фракция Количественный Точка во времени;Момент
tr-TR Turkish (Turkey) Beta-N-asetilhekzosaminidaz.A/Beta-n-asetilhekzosaminidaz.total:KtlFr:Zmlı:Lökosit:Kant:
Synonyms: WBC
uk-UA Ukrainian (Ukraine) Бета-N-ацетилгексозамінідаза.А/Бета-N-ацетилгексозамінідаза.загальна:Каталітична фракція:МоментЧасу:Білі кров'яні клітини:Кількісно:
Synonyms: B; Beta-hexosaminidase subunit alpha; B-NAH; Catalytic Fraction; Chemistry; GM2 Gangliosidoses; GM2-gangliosidosis; Hex A; Hex B; HEXA; Hexosaminidase; Hexosaminidase A; Leukocytes; Percent; Point in time; QNT; Quan; Quant; Quantitative; Random; Sandhoff disease; Tay Sachs Disease; Tot; Totl; WBCs; White blood cells
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:催化分数:时间点:白细胞:定量型:
Synonyms: A 型 B Beta-N-乙酰己糖胺酶 A;Beta-N-乙酰氨基己糖苷酶 A;Beta-N-乙酰氨基己糖苷酶.A;Hex A;Sandoff 氏病;Sandoff 病;β-N-乙酰己糖胺酶 A;β-N-乙酰己糖胺酶.A;β-N-乙酰氨基己糖苷酶 A;β-N-乙酰氨基己糖苷酶.A;己糖胺酶 A;己糖胺酶.A;氨基己糖苷酶 A;氨基己糖苷酶.A Beta-N-乙酰氨基己糖苷酶;B-NAH;GM2-神经节苷脂沉积症;GM2-神经节苷脂贮积病;β-N-乙酰己糖胺酶;β-N-乙酰氨基己糖苷酶;己糖胺酶;氨基己糖苷酶 Beta-n-乙酰氨基已糖苷酶（Beta-N-乙酰氨基己糖苷酶、B-NAH、β-N-乙酰己糖胺酶、β-N-乙酰氨基己糖苷酶、己糖胺酶、氨基己糖苷酶）.总计;Beta-n-乙酰己糖胺酶总计 N 型 WBC;WBCs;白血球;白血细胞 β 全体数量 全部 共计 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 总 总和 总数 总量 总额 时刻;随机;随意;瞬间 汇总 贝塔

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

Additional Names

Short Name
HEXA gene Mut Anl Bld/T
Display Name
HEXA gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HEXA gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
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
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen HEXA:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
es-ES Spanish (Spain) Gen HEXA Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) HEXA gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) HEXA, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene HEXA Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HEXA-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: HEXA gen molgen targeted
pt-BR Portuguese (Brazil) HEXA análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Tay-Sachs disease; hexosaminidase A (alpha polypeptide) gene; N-acetyl-beta-glucosaminidase gene; TSD; beta-N-acetylhexosaminidase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HEXA ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HEXA geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) HEXA 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: beta-N-乙酰己糖胺酶基因;beta-N-乙酰氨基已糖苷酶基因;N-乙酰基-beta-己糖胺酶基因;N-乙酰基-beta-氨基葡糖苷酶基因;N-乙酰基-β-己糖胺酶基因;N-乙酰基-β-氨基葡糖苷酶基因;Tay-Sachs 氏病;Tay-Sachs 氏症;Tay-Sachs 病;Tay-Sachs 症;TSD;β-N-乙酰己糖胺酶基因;β-N-乙酰氨基已糖苷酶基因;己糖胺酶 A (alpha 多肽)基因;己糖胺酶 A (α多肽)基因;氨基已糖苷酶 A (alpha 多肽)基因;氨基已糖苷酶 A (α多 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因