Screens for chromosomes 13, 18, 21, X, Y, triploidy, and Turner syndrome (TS).
- Patient Preparation
- 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.
Optional Specimen: Paternal specimens must be collected in buccal brush.
- Specimen Preparation
- Transport 20 mL maternal blood in Cell-Free DNA BCT Tube (ARUP Supply #50223) and optional paternal buccal brush. (Min: 16 mL) Available online through eSupply or contacting ARUP Client Services at (800) 522-2787. A paternal specimen is requested but is not required for testing. The paternal specimen cannot be tested alone and must be provided along with the maternal blood. Do not send the buccal brush separately.
- Storage/Transport Temperature
- Room temperature.
- Unacceptable Conditions
- Patient History and Informed Consent for Non-Invasive Prenatal Testing (NIPT) form required. 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). This is a screening test to help identify fetuses at risk for Down Syndrome, trisomy 18, trisomy 13 and Turner Syndrome. This test should not be considered diagnostic. It is recommended that any positive result should be confirmed by amniocentesis or CVS.
- Ambient: 5 days; Refrigerated: Unacceptable; Frozen: Unacceptable
|Component Test Code*||Component Chart Name||LOINC|
|2007538||EER Non-Invasive Prenatal, Aneuploidy||11526-1|
|2008431||Report Fetal Sex?||8251-1|
|2009260||Gestational Age at draw (Weeks)||49051-6|
|2010002||Maternal Weight (Pounds)||8338-6|
|2010003||Gestational Age at draw (Days)||49052-4|
- edward syndrome
- patau syndrome
- trisomy 21
Performed at Natera