Cell-free DNA is isolated from the sample and analyzed using the next generation sequencing (NGS) platform.
5-7 business days
Use only the black and tan capped (Streck) tube from the informaSeq kit
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).
Causes for Rejection
Gestational age less than 10 weeks; incorrect or expired blood tube; quantity not sufficient for analysis; specimen received more than six days from collection; excessive hemolysis; frozen specimens; specimen received without foil pack and cold pack
Maintain specimen at room temperature. Specimen must be shipped 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.
Screening for T21, T18, and T13 chromosomal aneuploidies
Provides risk assessment for the most common autosomal trisomies. Appropriate for high-risk patients with singleton and twin pregnancies.
The informaSeq test is a prenatal aneuploidy assay used for screening chromosomes 13, 18, and 21. The X and Y chromosomes are 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.
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 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, 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).
Cell-free Fetal DNA Trisomy Testing
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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 21519036
Verinata Health. Analytical Validation of the verifi® Prenatal Test: Enhanced Test Performance for Detecting Trisomies 21, 18, 13 and the Option for Classification of Sex Chromosome Status.Redwood City, Calif: Verinata Health; 2012.