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Non-Invasive Prenatal Testing for Fetal Aneuploidy with 22q11.2 Microdeletion
2013142
Ordering Recommendation

Screens for whole chromosome fetal aneuploidy involving chromosomes, 13, 18, 21, X, Y, and triploidy. Also screens for microdeletions causing 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome [VCFS]). Useful when the fetus is identified as having a heart defect and/or other findings suggestive of del22q11.2.

Mnemonic
NIPTANEU22
Methodology
Targeted Sequencing with SNPs
Performed
Mon-Fri: Varies
Reported
12-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Whole blood in Cell-Free DNA BCT Tube. All specimens must be collected using the NIPT ANEU kit (ARUP Supply #50223). Available online through eSupply or contacting ARUP Client Services at (800) 522-2787.
Required Specimen: Maternal specimens must be collected in 2 Cell-Free DNA BCT tubes. 
Specimen Preparation
Transport 20 mL maternal blood in Cell-Free DNA BCT Tube (ARUP Supply #50223). (Min: 16 mL) Available online through eSupply or contacting ARUP Client Services at (800) 522-2787. 
Storage/Transport Temperature
Room temperature. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Refer to report.

Note
Testing utilizes a single-nucleotide polymorphism (SNP)/informatics-based approach to detect fetal copy number for the five chromosomes responsible for the majority of live-birth aneuploidies (chromosomes 13, 18, 21, X, Y, and triploidy) and certain specific microdeletion syndromes (see current list of microdeletion syndromes listed under "Ordering Recommendations"). This is a screening test to help identify fetuses at risk for Down syndrome, trisomy 18, trisomy 13 and Turner syndrome, as well as fetuses affected with the specified microdeletion syndromes listed. This test should not be considered diagnostic. All positive results should be confirmed by amniocentesis or CVS.
Components
Component Test Code*Component Chart NameLOINC
2008381Trisomy 2173966-4
2008382Trisomy 1873825-2
2008383Trisomy 1373824-5
2008386Monosomy X73821-1
2008430Fetal Fraction
2008431Report Fetal Sex?8251-1
2008830Triploidy/Vanishing Twin
2009259Result Summary48767-8
2009260Gestational Age at draw (Weeks)49051-6
2010002Maternal Weight (Pounds)8338-6
2010003Gestational Age at draw (Days)49052-4
2010004Fetal Sex11882-8
201035422q11.2 deletion syndrome
2013131Maternal Height (Inches)
2013135Number of Fetuses
2013143EER Fetal Aneuploidy w/22q11.2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • 22q
  • 45X
  • Ariosa
  • cell free
  • cell-free
  • cellfree
  • cfDNA
  • cffDNA
  • DiGeroge
  • edward syndrome
  • Harmony
  • MaterniT21
  • Maternity21
  • Natera
  • NIPD
  • Panorama
  • patau syndrome
  • Sequenom
  • T13
  • T18
  • trisomy 21
  • Verifi
  • Verinata