75576-9
Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
Active
Term Description
This term was developed for, but is not limited in use to, Natera's Panorama noninvasive prenatal test for fetal aneuploidies and microdeletions. It represents the risk based on a priori risk combined with the Panorama test result.
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
- Likelihood
- Time
- Pt
- System
- WBC.DNA+Plas.cfDNA
- Scale
- Qn
- Method
- Dosage of chromosome specific cf DNA
Additional Names
- Short Name
- Fet 22q11.2 del risk WBC.DNA+cfDNA Qn
- Display Name
- 22q11.2 del risk Dosage of chromosome-specific cfDNA Qn (Plasma cell-free+WBC DNA)
- Consumer Name Alpha Get Info
- Fetal 22q11.2 deletion risk
Basic Attributes
- Class
- MOLPATH.DEL
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.73
- Change Reason
- Added "Fetal" to Component to clarify that the result is about the fetus.
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 96978-2 | Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA |
| 75547-0 | Noninvasive prenatal fetal aneuploidy and microdeletion panel based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific circulating cell free (ccf) DNA |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Riesgo de deleción 22q11.2: Synonyms: Cuantitativo |
| 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 genetica DNA libero circolante nel plasma Dosaggio di DNA libero fetale circolante cromosoma Globuli bianchi Globuli bianchi+DNA libero circolante nel plasma Patologia molecolare Plasma Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 胎儿 22q11.2 染色体缺失风险: Synonyms: WBC.DNA+血浆.cfDNA; |
Example Units
| Unit | Source |
|---|---|
| {risk} | Example UCUM Units |
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