LOINC
Version 2.66

75577-7Fetal 22q11.2 deletion risk [Likelihood] based on Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA NarrativeActive

Component
Fetal 22q11.2 deletion risk
Property
Likelihood
Time
Pt
System
WBC.DNA+Plas.cfDNA
Scale
Nar
Method
Dosage of chromosome specific cf DNA

Additional Names

Short Name
Fet 22q11.2 del risk WBC.DNA+cfDNA
Display Name Beta
22q11.2 del risk Dosage of chromosome-specific cfDNA Nar (Plasma cell-free+WBC DNA)
Consumer Name Alpha
Fetal 22q11.2 Deletion Risk

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. [GHR: 22q112-deletion-syndrome] Source: Regenstrief LOINC, GHR: 22q11.2 deletion syndrome

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66
Change Reason
Added "Fetal" to Component to clarify that the result is about the fetus.
Order vs. Observation
Both
Common US Lab Results Rank
3000
Common SI Lab Results Rank
3000

Member of these Panels

LOINC Long Common Name
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

fr-FRFrench (France)
22q11.2 deletion risk:Likelihood:Pt:WBC.DNA+Plas.cfDNA:Nar:Dosage of chromosome specific cf DNA

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75577-7