79212-7

LOINC 2.82

Fetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by Sequencing

Fet Microdel risk Plas.cfDNA Seq-Imp

Definition

  • 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.

Component

  • Fetal microdeletions risk

Specimen / system

  • Plas.cfDNA

Class

  • MOLPATH

Property

  • Imp

Scale

  • Ord

Method

  • Sequencing

Related names

  • 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; Plasma; Plsm; Point in time; QL; Qual; Qualitative; Random; Screen

Index terms

  • 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
  • Plasma
  • Plsm
  • Point in time
  • QL
  • Qual
  • Qualitative
  • Random
  • Screen