88572-3

LOINC 2.82

Fetal 22q11.2 deletion risk [Interpretation] based on Plasma cell-free DNA by Dosage of chromosome-specific cfDNA Qualitative

Fet 22q11.2 del risk Plas.cfDNA Ql

Definition

  • 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.

Component

  • Fetal 22q11.2 deletion risk

Specimen / system

  • Plas.cfDNA

Class

  • MOLPATH.DELDUP

Property

  • Imp

Scale

  • Ord

Method

  • Dosage of chromosome specific cf DNA

Related names

  • 22q11.2 del risk; Chromosom; Chromosomes; Genetics; Heredity; Heritable; Impression; Impression/interpretation of study; Impressions; Inherited; Interp; Interpretation; Molecular pathology; MOLPATH; MOLPATH.DELDUP; Ordinal; Pl; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen; Spec

Index terms

  • 22q11.2 del risk
  • Chromosom
  • Chromosomes
  • Genetics
  • Heredity
  • Heritable
  • Impression
  • Impression/interpretation of study
  • Impressions
  • Inherited
  • Interp
  • Interpretation
  • Molecular pathology
  • MOLPATH
  • MOLPATH.DELDUP
  • Ordinal
  • Pl
  • Plasma
  • Plsm
  • Point in time
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen
  • Spec