55234-9
Alpha thalassemia gene panel - Blood by Molecular genetics method
Active
55249-7 HBA2 gene SEA deletion [Presence] in Blood by Molecular genetics method
Fully-Specified Name
- Component
- HBA2 gene SEA deletion
- Property
- Arb
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- HBA2 SEA Del Bld Ql
- Display Name
- HBA2 gene SEA del Molgen Ql (Bld)
- Consumer Name Alpha Get Info
- HBA2 gene SEA deletion analysis, Blood
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.27
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
55234-9 | Alpha thalassemia gene panel - Blood by Molecular genetics method |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HBA2 SEA Deleción: |
es-MX | Spanish (Mexico) | Deleción SEA del gen HBA2: |
fr-FR | French (France) | HBA2 gène délétion SEA: |
it-IT | Italian (Italy) | HBA2, gene SEA Delezione: Synonyms: Arbitrario Delezione genetica Gene HBA2 Gene HBA2 SEA Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue |
nl-NL | Dutch (Netherlands) | HBA2-gen SEA deletie: Synonyms: HBA2 gen HBA2 gen SEA molgen |
pt-BR | Portuguese (Brazil) | HBA2 gene SEA deleção: Synonyms: ; |
ru-RU | Russian (Russian Federation) | HBA2 ген SEA делеция: Synonyms: Кровь Порядковый Произвольный Точка во времени; |
tr-TR | Turkish (Turkey) | HBA2 geni SEA delesyon: |
zh-CN | Chinese (China) | HBA2 基因 SEA 缺失: Synonyms: HBA1; |
55250-5 HBA2 gene THAI+FIL+MED+alpha 20.5 deletion [Presence] in Blood by Molecular genetics method
Fully-Specified Name
- Component
- HBA2 gene THAI+FIL+MED+alpha 20.5 deletion
- Property
- Arb
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- HBA2 THAI+FIL+MED+alpha 20.5 Del Bld Ql
- Display Name
- HBA2 gene THAI+FIL+MED+alpha 20.5 del Molgen Ql (Bld)
- Consumer Name Alpha Get Info
- HBA2 gene THAI+FIL+MED+alpha 20.5 deletion analysis, Blood
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.27
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
55234-9 | Alpha thalassemia gene panel - Blood by Molecular genetics method |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HBA2 THAI+FIL+MED+alfa 20.5 Deleción: |
es-MX | Spanish (Mexico) | Deleción del gen HBA2 THAI + FIL + MED + alfa 20.5: |
fr-FR | French (France) | HBA2 gène THAI+FIL+MED+délétion alpha 20.5: |
it-IT | Italian (Italy) | HBA2, gene THAI+FIL+MED+alpha 20.5 Delezione: Synonyms: Arbitrario Delezione genetica Gene HBA2 Gene HBA2 THAI+FIL+MED+alfa 20.5 Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue |
nl-NL | Dutch (Netherlands) | HBA2-gen THAI+FIL+MED+alfa 20.5 deletie: Synonyms: HBA2 gen HBA2 gen THAI+FIL+MED+alfa 20.5 molgen |
pt-BR | Portuguese (Brazil) | HBA2 gene THAI+FIL+MED+alfa 20.5 deleção: Synonyms: ; |
ru-RU | Russian (Russian Federation) | HBA2 ген THAI+FIL+MED+альфа 20.5 делеция: Synonyms: Кровь Порядковый Произвольный Точка во времени; |
tr-TR | Turkish (Turkey) | HBA2 geni THAI+FIL+MED+alfa 20.5 delesyon: |
zh-CN | Chinese (China) | HBA2 基因 THAI+FIL+MED+alpha 20.5 缺失: Synonyms: HBA1; |
55251-3 HBA2 gene alpha 3.7kb deletion [Presence] in Blood by Molecular genetics method
Fully-Specified Name
- Component
- HBA2 gene alpha 3.7kb deletion
- Property
- Arb
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- HBA2 alpha 3.7kb Del Bld Ql
- Display Name
- HBA2 gene alpha 3.7kb del Molgen Ql (Bld)
- Consumer Name Alpha Get Info
- HBA2 gene alpha 3.7kb deletion analysis, Blood
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.58
- Change Reason
- Changed "3.7" in Component to "3.7kb" to clarify the 3.7 refers to the number of kilobases.
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
55234-9 | Alpha thalassemia gene panel - Blood by Molecular genetics method |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Deleción alfa 3.7kb del gen HBA2: |
es-ES | Spanish (Spain) | Gen HBA2 alfa 3.7 Deleción: |
fr-FR | French (France) | HBA2 gène alpha délétion 3.7kb: |
fr-CA | French (Canada) | HBA2 gène alpha 3.7kb,délétion: |
it-IT | Italian (Italy) | HBA2, gene alpha 3.7 Delezione: Synonyms: Arbitrario Delezione genetica Gene HBA2 Gene HBA2 alfa 3.7 Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue |
nl-NL | Dutch (Netherlands) | HBA2-gen alfa 3.7 deletie: Synonyms: HBA2 gen HBA2 gen alfa 3.7 molgen |
pt-BR | Portuguese (Brazil) | HBA2 gene alfa 3.7 deleção: Synonyms: ; |
ru-RU | Russian (Russian Federation) | HBA2 ген альфа 3.7 делеция: Synonyms: Кровь Порядковый Произвольный Точка во времени; |
tr-TR | Turkish (Turkey) | HBA2 geni alfa 3.7 delesyon: |
zh-CN | Chinese (China) | HBA2 基因 alpha 3.7kb 缺失: Synonyms: HBA1; |
55236-4 HBA2 gene alpha 4.2kb deletion [Presence] in Blood by Molecular genetics method
Fully-Specified Name
- Component
- HBA2 gene alpha 4.2kb deletion
- Property
- Arb
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- HBA2 alpha 4.2kb Del Bld Ql
- Display Name
- HBA2 gene alpha 4.2kb del Molgen Ql (Bld)
- Consumer Name Alpha Get Info
- HBA2 gene alpha 4.2kb deletion analysis, Blood
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.58
- Change Reason
- Changed "4.2" in Component to "4.2kb" to clarify the 4.2 refers to the number of kilobases.
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
55234-9 | Alpha thalassemia gene panel - Blood by Molecular genetics method |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HBA2 alfa 4.2 Deleción: |
es-MX | Spanish (Mexico) | Deleción de 4,2 kb del gen alfa HBA2: |
fr-FR | French (France) | HBA2 gène alpha délétion 4.2 kb: |
it-IT | Italian (Italy) | HBA2, gene alpha 4.2 Delezione: Synonyms: Arbitrario Delezione genetica Gene HBA2 Gene HBA2 alfa 4.2 Genetica molecolare Patologia molecolare Punto nel tempo (episodio) Sangue |
nl-NL | Dutch (Netherlands) | HBA2-gen alfa 4.2 deletie: Synonyms: HBA2 gen HBA2 gen alfa 4.2 molgen |
pt-BR | Portuguese (Brazil) | HBA2 gene alfa 4.2 deleção: Synonyms: ; |
ru-RU | Russian (Russian Federation) | HBA2 ген альфа 4.2 делеция: Synonyms: Кровь Порядковый Произвольный Точка во времени; |
tr-TR | Turkish (Turkey) | HBA2 geni alfa 4.2 delesyon: |
zh-CN | Chinese (China) | HBA2 基因 alpha 4.2kb 缺失: Synonyms: HBA1; |
55237-2 HBA2 gene c.427T>C [Presence] in Blood by Molecular genetics method
Term Description
This assay detects the hemoglobin Constant Spring (CS) mutation located in the HBA2 gene on chromosome 16 at position p13.3.[NCBI ClinVar ID: 15624]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- HBA2 gene.c.427T>C
- Property
- PrThr
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- HBA2 c.427T>C Bld Ql
- Display Name
- HBA2 gene c.427T>C Molgen Ql (Bld)
- Consumer Name Alpha Get Info
- HBA2 gene c.427T>C, Blood
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.66
- Change Reason
- Updated Component name from "HBA2 CS gene" to align with the HGVS recommendations for naming a variant. Also updated the Property from "Arb" to "PrThr" based on the current LOINC model.
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
55234-9 | Alpha thalassemia gene panel - Blood by Molecular genetics method |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HBA2 c.427T> C: |
es-MX | Spanish (Mexico) | HBA2 gene.c.427T> C: |
fr-FR | French (France) | HBA2 gène c.427T>C: |
it-IT | Italian (Italy) | HBA2, gene.c.427T>C: Synonyms: Gene HBA2 Gene HBA2 c.427T> |
nl-NL | Dutch (Netherlands) | HBA2-gen c.427T>C: Synonyms: HBA2 gen molgen |
pt-BR | Portuguese (Brazil) | HBA2 CS gene: Synonyms: HB Constant Spring; |
zh-CN | Chinese (China) | HBA2 基因.c.427T>C: Synonyms: C 型; |
55238-0 HBA2 gene c.429A>T [Presence] in Blood by Molecular genetics method
Fully-Specified Name
- Component
- HBA2 gene.c.429A>T
- Property
- PrThr
- Time
- Pt
- System
- Bld
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- HBA2 c.429A>T Bld Ql
- Display Name
- HBA2 gene c.429A>T Molgen Ql (Bld)
- Consumer Name Alpha Get Info
- HBA2 gene c.429A>T, Blood
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.56
- Change Reason
- Changed Component part from c.A429T to c.429A>T to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Observation
Member of these Panels
LOINC | Long Common Name |
---|---|
55234-9 | Alpha thalassemia gene panel - Blood by Molecular genetics method |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen HBA2 c. A429T: |
es-MX | Spanish (Mexico) | HBA2 gene.c.429A> T: |
fr-FR | French (France) | HBA2 gène mutation c.429A>T: |
it-IT | Italian (Italy) | HBA2, gene.c.429A>T: Synonyms: Gene HBA2 Gene HBA2 c.429A> |
nl-NL | Dutch (Netherlands) | HBA2-gen.c.429A>T: Synonyms: HBA2 gen HBA2 gen.c.429A> |
pt-BR | Portuguese (Brazil) | HBA2 gene.c.A429T: Synonyms: HB Paske; |
ru-RU | Russian (Russian Federation) | HBA2 ген.c.429A>T: Synonyms: Кровь Порядковый Точка во времени; |
tr-TR | Turkish (Turkey) | HBA2 geni.c.429A>T: Synonyms: Mevcut |
zh-CN | Chinese (China) | HBA2 基因.c.429A>T: Synonyms: C 型; |