79212-7
LaboratoryFetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by Sequencing
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.
LOINC 6-Axis Classification
Component
Fetal microdeletions risk
Property
Imp
Time Aspect
Pt
System
Plas.cfDNA
Scale Type
Ord
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Observation
Short Name
Fet Microdel risk Plas.cfDNA Seq-Imp
Display Name
Microdels risk Sequencing Ql (cfDNA) [Interp]
Related Names
Frequently Asked Questions
What is LOINC code 79212-7?
LOINC code 79212-7 identifies "Fetal Microdeletions risk [interpretation] in Plasma cell-free DNA Qualitative by Sequencing". 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.
What does 79212-7 measure?
This code measures Fetal microdeletions risk in Plas.cfDNA. It belongs to the MOLPATH class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.