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- Cell-free Fetal DNA Trisomy Testing
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. 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).
Cell-free DNA is isolated from the sample and analyzed using the next generation sequencing (NGS) platform.
Black-and-tan-top (Streck) tube (whole blood). If needed, collection kits are available. (PeopleSoft N°107762)
Only the LabCorp informaSeq collection kit PeopleSoft N°107762 can be used for collection.
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
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.
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|550746||informaSeq(R) Prenatal Test||550717||Results||55228-1|
|550746||informaSeq(R) Prenatal Test||550718||Screen Result||75975-3|
|550746||informaSeq(R) Prenatal Test||550852||Fetal Fraction (%):||75605-6|
|550746||informaSeq(R) Prenatal Test||550719||Chromosome 21 Result||75983-7|
|550746||informaSeq(R) Prenatal Test||550721||Chromosome 21 Interpretation||75976-1|
|550746||informaSeq(R) Prenatal Test||550722||Chromosome 18 Result||75982-9|
|550746||informaSeq(R) Prenatal Test||550726||Chromosome 18 Interpretation||75978-7|
|550746||informaSeq(R) Prenatal Test||550727||Chromosome 13 Result||75981-1|
|550746||informaSeq(R) Prenatal Test||550728||Chromosome 13 Interpretation||75979-5|
|550746||informaSeq(R) Prenatal Test||550733||Comments||8251-1|
|550746||informaSeq(R) Prenatal Test||550736||Fetal Number||11878-6|
|550746||informaSeq(R) Prenatal Test||550737||Gestational Age at Collection||weeks||18185-9|
|550746||informaSeq(R) Prenatal Test||550739||Race||21484-1|
|550746||informaSeq(R) Prenatal Test||550741||Weight||lbs||29463-7|
|550746||informaSeq(R) Prenatal Test||550738||Indication for Testing||42349-1|
|550746||informaSeq(R) Prenatal Test||550743||Test Description||49549-9|
|550746||informaSeq(R) Prenatal Test||550844||Test Performance||74020-9|
|550746||informaSeq(R) Prenatal Test||550859||Test Limitations||8262-8|
|550746||informaSeq(R) Prenatal Test||550744||Disclaimer||N/A|
|550746||informaSeq(R) Prenatal Test||550834||References||75608-0|
|550746||informaSeq(R) Prenatal Test||550856||Director Review||72486-4|
|550746||informaSeq(R) Prenatal Test||511955||51969-4|