LOINC Code 96978-2: Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel Dosage of chromosome-specific cfDNA (Plasma cell-free+WBC DNA)

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel. It is commonly used with the system or sample type WBC.DNA+Plas.cfDNA.

When is it used?

• Used in lab systems, EHRs, and clinical data exchange.
• May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
• Status: ACTIVE
• Order vs observation: Order
• Panel type: Panel
• Method: Dosage of chromosome specific cf DNA

What it does not mean

• The code identifies the observation or test, not the actual result.

Key facts

• Noninvasive prenatal fetal aneuploidy and 22q11.2 deletion panel - Plasma cell-free+WBC DNA by Dosage of chromosome-specific cfDNA
• Noninvasive prenatal fetal aneuploidy & 22q11.2 deletion panel
• This panel includes quantitative and qualitative risk terms for aneuploidies, including trisomy 13, 18 and 21, monosomy X, and triploidy, as well as the 22q11.2 microdeletion. Noninvasive prenatal screening is used to assess fetal risk for various genetic conditions without requiring invasive maternal procedures such as amniocentesis or chorionic villus sampling. Cell-free DNA (cfDNA) in maternal plasma comes from both fetal and maternal sources, and depending on the technology used, this DNA can be used to determine fetal risk for a variety of conditions including aneuploidy (e.g., trisomy 21, monosomy X) and microdeletions (e.g., 22q11.2 deletion). This panel was developed for, but is not limited in use to, Natera's Panorama aneuploidy + 22q11.2 deletion prenatal test, which incorporates SNP analysis of maternal white blood cell DNA with combined maternal and fetal cfDNA SNP analysis. Natera's proprietary informatics analysis method (NATUS) effectively subtracts the maternal genotype from the cfDNA genotype and analyzes the remaining fetal cfDNA genotype for certain aneuploidies and microdeletion syndromes.
• Chromosom; Chromosomes; Gyn; Gynecology; Leukocytes; Molecular pathology; MOLPATH; NIP aneu + 22q11.2 Pnl; OB; ObGyn; Obstetrics; Pan; Panel.molpath; Panl; Pl; Plasma; Plsm; Pnl; Point in time; Random; Spec; WBC.DNA+cfDNA; WBCs; White blood cells

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

Frequently asked questions