informaSeq® Prenatal Test With X, Y Analysis

CPT: 81420
Updated on 6/11/2018
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Test Details

Synonyms

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

Use

The informaSeq test is a prenatal aneuploidy assay used for screening chromosomes 13, 18, 21, X, and Y. The test is validated for singleton 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

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).

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. 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).

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

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