79212-7
LOINC Code
| LOINC code | 79212-7 | ||
|---|---|---|---|
| name | |||
| description | The interpretation (e.g. not detected, increased risk) of chromosomal microdeletions present in fetal cell-free DNA from maternal plasma. This term was created for, but not limited in use to, QNatal Advanced, a non-invasive prenatal test which uses massively parallel sequencing to identify microdeletions in select chromosome regions, including 22q (DiGeorge syndrome), 15q (Prader-Willi/Angelman syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), and 1p36 deletion syndrome. | ||
| status | ACTIVE | ||
Fully-Specified Name | |||
| component | Fetal microdeletions risk | ||
| property | Imp = Impression/interpretation of study | ||
| time | Pt = Point in time: To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements. | ||
| system | Plas.cfDNA | ||
| scale | Ord = Ordinal: Ordered categorical responses, e.g., 1+, 2+, 3+; positive, negative; reactive, indeterminate, nonreactive. | ||
| method | Sequencing | ||
Additional Names | |||
| short name | Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Microdel risk; Molecular pathology; MOLPATH; Next generation sequencing; NGS; Ordinal; Pl; Plas | ||
Basic Attributes | |||
| class | MOLPATH | ||
| type | 1 Laboratory | ||
| order vs. observation | Fet Microdel ri | ||
Member of these Panels | |||
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History/Usage | |||
| first released | |||
| last updated | 2.66 | ||
| last change type | NAM - change to Analyte/Component | ||
Related Names | |||
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