LP281415-2
F8 gene intron 22 inversion
Active
Description
Inversions in either intron 1 or intron 22 in the F8 gene together account for 45-50% of mutations associated with severe hemophilia A (HA) in males. PMID: 18284600 These inversions are typically not identified in patients with mild or moderate HA. When an inversion mutation is identified in a family, males affected with severe hemophilia A in the same family may be tested for the mutation. At-risk females also may be tested to determine their hemophilia A carrier status. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- F8 gene intron 22 inversion
- Part Display Name
- F8 gene intron 22 inversion
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-01-24
- Construct for LOINC Short Name
- F8 intron 22 Inv
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | F8 基因内含子 22 倒位 Synonyms: 凝血因子 VIII; |
| it-IT | Italian (Italy) | F8 introne 22 inversione, gene Synonyms: Gene F8 introne 22 inversione |
| fr-FR | French (France) | F8 gène intron 22 inversion |
| es-ES | Spanish (Spain) | Inversión del intrón 22 del gen F8 |
| pl-PL | Polish (Poland) | F8 gen intron 22 inwersja Synonyms: Inwersja w intronie 22 genu F8 |
| el-GR | Greek (Greece) | Αντιστροφή ιντρονίου 22 γονιδίου F8 Synonyms: Αντιστροφή ιντρονίου 22 γονιδίου F8 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://