informaSeq® Prenatal Test With Y Analysis

CPT: 81420
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Test Details

Synonyms

  • Cell-free Fetal DNA Trisomy Testing
  • Trisomy Detection With Y Analysis

Use

The informaSeq test is a prenatal aneuploidy assay used for screening chromosomes 13, 18, and 21. The X chromosome is not assessed by this assay. The test is validated for singleton and twin pregnancies with gestational ages of at least 10 weeks. This test is not intended to be used for fetal diagnostic purposes or as a stand-alone diagnostic test without confirmation by another medically established diagnostic product or procedure. Test results that suggest high risk for fetal trisomy should prompt consideration for genetic counseling. Results should be considered in the context of other clinical criteria.

Limitations

Fetal aneuploidy for chromosomes 13, 18, and 21 is assessed in twin gestations; however, when detected, the individual aneuploidy status of each fetus cannot be determined. Sex chromosome aneuploidy is not assessed in twin gestations. In rare cases, the test results may reflect confined placental mosaicism or maternal aneuploidy, rather than the fetal status. A negative test result does not exclude aneuploidy of chromosomes 13, 18, 21, sex chromosomes, or the presence of other chromosome or fetal abnormalities. This test is not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. Correlation of these results with all clinical findings is recommended.

This test was developed, and the performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Cell-free DNA is isolated from the sample and analyzed using the next generation sequencing (NGS) platform.

Specimen Requirements

Specimen

Whole blood

Volume

10 mL

Minimum Volume

7 mL

Container

Black-and-tan-top (Streck) tube (whole blood). If needed, collection kits are available. (PeopleSoft N° 107762)

Collection

Only the LabCorp informaSeq collection kit PeopleSoft N°107762 can be used for collection.

Storage Instructions

Maintain specimen at room temperature. Samples must be shipped to LabCorp in an informaSeq® collection kit with gel pack or, minimally, in the foil pack with gel pack available in the collection kit. Specimens should remain in the foil pack and collection kit during transport to the regional laboratory. Transport from the regional laboratory to CMBP may be effected in the foil pack with gel pack or a bulk shipper with gel pack

Causes for Rejection

Gestational age less than 10 weeks; expired or incorrect blood tubes (including nonglass tubes); quantity not sufficient for analysis; specimen received more than six days from collections; excessive hemolysis; frozen specimens; specimen received without foil pack and cold pack

Clinical Information

Special Instructions

The following information must be provided with the test request form: patient's date of birth, gestational age, and the clinical indications (including advanced maternal age, abnormal ultrasound, history suggestive of increased risk for aneuploidy, positive serum screen, or other indications). Additional patient demographic information (weight, race, pregnancy type, donor egg status) can be provided on the Maternal Prenatal Screening form (0900) or the electronic submission form.

References

Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012 May; 119(5):890-901. 22362253
Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013 Jun; 33(6):569-574. 23592485
Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013 May; 15(5):395-398. 23558255
Internal correlation data on file.
American College of Obstetricians and Gynecologists Committee on Genetics. Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion N° 545. Obstet Gynecol. 2012 Dec; 120(6):1532-1534. 23168792
Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul; 57(7):1042-1049. 21519036

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
550757 informaSeq(R) with Y Analysis 550792 Results 55228-1
550757 informaSeq(R) with Y Analysis 550793 Screen Result 75980-3
550757 informaSeq(R) with Y Analysis 550849 Fetal Fraction (%): 75605-6
550757 informaSeq(R) with Y Analysis 550794 Chromosome 21 Result 75983-7
550757 informaSeq(R) with Y Analysis 550795 Chromosome 21 Interpretation 75976-1
550757 informaSeq(R) with Y Analysis 550796 Chromosome 18 Result 75982-9
550757 informaSeq(R) with Y Analysis 550797 Chromosome 18 Interpretation 75978-7
550757 informaSeq(R) with Y Analysis 550799 Chromosome 13 Result 75981-1
550757 informaSeq(R) with Y Analysis 550802 Chromosome 13 Interpretation 75979-5
550757 informaSeq(R) with Y Analysis 550753 Sex Chromosome Result 73822-9
550757 informaSeq(R) with Y Analysis 550754 Sex Chromosome Interpretation 75977-9
550757 informaSeq(R) with Y Analysis 550805 Comments 8251-1
550757 informaSeq(R) with Y Analysis 550808 Fetal Number 11878-6
550757 informaSeq(R) with Y Analysis 550809 Gestational Age at Collection weeks 18185-9
550757 informaSeq(R) with Y Analysis 550813 Race 21484-1
550757 informaSeq(R) with Y Analysis 550815 Weight lbs 29463-7
550757 informaSeq(R) with Y Analysis 550812 Indication for Testing 42349-1
550757 informaSeq(R) with Y Analysis 550817 Test Description 49549-9
550757 informaSeq(R) with Y Analysis 550846 Test Performance 74020-9
550757 informaSeq(R) with Y Analysis 550862 Test Limitations 8262-8
550757 informaSeq(R) with Y Analysis 550821 Disclaimer N/A
550757 informaSeq(R) with Y Analysis 550836 References 75608-0
550757 informaSeq(R) with Y Analysis 550857 Director Review 72486-4
550757 informaSeq(R) with Y Analysis 511955 PDF 51969-4

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