88572-3
Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
Active
Term Description
The ordinal risk interpretation (e.g. high risk/low risk or high probability/low probability) of the fetus having a 22q11.2 deletion based on dosage of chromosome specific cell-free DNA (cf DNA) in maternal plasma that contains both fetal and maternal DNA. Results may also be based on the mother's current age, IVF status (self, non-self, or not applicable), and gestational age. This code is based, but not limited in use to, the submitter's test, the Harmony Prenatal Test, a non-invasive prenatal test for screening of fetal aneuploidy as well as the 22q11.2 deletion.
Source: Regenstrief LOINC
Part Description
LP185776-4 Fetal 22q11.2 deletion risk
22q11.2 deletion syndrome, also known by many other names including DiGeorge syndrome, CATCH22, and velocardiofacial syndrome, is caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion syndrome is associated with variable characteristics including congenital heart disease, recurrent infection due to immune dysfunction, cleft palate and other distinct facial features, cognitive delay and autoimmune disease. The general population risk of 22q11.2 deletion is about 1 in 4,000 live births, and does not change with maternal age. Fetal risk of having 22q11.2 deletion syndrome can be derived from the general population risk as well as prenatal genetic testing of fetal DNA. [MedlinePlus Condition: 22q112-deletion-syndrome]
Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome
Fully-Specified Name
- Component
- Fetal 22q11.2 deletion risk
- Property
- Imp
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Ord
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Long Common Name
- Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative
- Short Name
- Fet 22q11.2 del risk Plas.cfDNA Ql
- Display Name
- 22q11.2 del risk Dosage of chromosome-specific cfDNA Ql (cfDNA) [Interp]
- Consumer Name Alpha Get Info
- Fetal 22q11.2 deletion risk
Example Answer List: LL4771-3
Source: Regenstrief LOINC| Answer | Code | Score | Answer ID |
|---|---|---|---|
| High probability | LA28478-8 | ||
| Low probability | LA28479-6 |
Basic Attributes
- Class
- MOLPATH.DELDUP
- Type
- Laboratory
- First Released
- Version 2.64
- Last Updated
- Version 2.66
- Change Reason
- Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 73967-2 | Noninvasive prenatal fetal aneuploidy panel - Plasma cell-free DNA |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Riesgo de deleción 22q11.2: |
| es-MX | Spanish (Mexico) | Riesgo de deleción fetal 22q11.2: |
| fr-FR | French (France) | Risque délétion 22q11.2 foetale: |
| it-IT | Italian (Italy) | Delezione 22q11.2 rischio: Synonyms: Delezione o duplicazione genica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Impressione/interpretazione di studio Patologia molecolare Plasma Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 胎儿 22q11.2 染色体缺失风险: Synonyms: 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=88572-3
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