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Epic Test Code LAB570 Fetal Aneuploidy Screening- Non-Invasive Prenatal Testing for Fetal Aneuploidy

Important Note

Results will not be reported without a gestational age greater than or equeal to 10 weeks. Testing will not be performed without number of fetuses provided. ARUP only performs testing on singleton pregnancies. Multiple gestation samples will be sent to Sequenom Laboratories for testing using the MaterniT21 PLUS Core (chr21,18,13) test; contact ARUP Client Services for submission requirements.

Additional Codes

ARUP:3003043

Performing Location(s)

ARUP

Specimen Type

Whole blood in Cell-Free DNA BCT Tube.  All specimens must be collected using the NIPT ANEU kit (ARUP Supply #50223) available from MIB Lab Call 6075473975
Required Specimen: Maternal specimens must be collected in 2 Cell-Free DNA BCT tube

Preferred Container

Whole blood in Cell-Free DNA BCT Tube

Minimum Volume

Transport 20 mL maternal blood in Cell-Free DNA BCT Tube

Storage Requirements

Refrigerated

Transportation Needs

Refrigerated

Specimen Stability

Ambient: Unacceptable
Refrigerated: 10 Days
Frozen: Unacceptable 

Causes for Rejection

Mislabeled or unlabeled specimen.
Less than 50% draw for Vacutainer tubes
Incorrect Specimen Collected

Ambient or Frozen

Reference Ranges

By report

Available STAT

No

Days of Analysis

Varies

Turnaround Time

12-14 days   once received into performing lab

Ordering Recommendation

First- or second-tier screening test for the most common fetal aneuploidy disorders: trisomy 13, trisomy 18, trisomy 21 (Down syndrome), Turner syndrome, sex chromosome aneuploidies (XXX, XXY, XYY), and triploidy. Testing may be offered to pregnant women from 10 weeks 0 days gestation to term. Test is not recommended for women who are carrying more than one fetus or have a known twin demise, patients who have used an egg donor, surrogates who have not used their own egg, or women who have had an allogeneic bone marrow transplant.

Ordering Notes

Testing utilizes a single-nucleotide polymorphism (SNP)/informatics-based approach to detect fetal copy number for the five chromosomes responsible for most 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. Test should not be considered diagnostic. It is recommended that any positive result be confirmed by amniocentesis or CVS.

Methodolgy

Targeted sequencing with SNPs

CPT Code

81420

Last Updated

7-OCT-24 MS