LabCorp and its Specialty Testing Group, a fully integrated portfolio of specialty and esoteric testing laboratories.

informaSeq® Prenatal Test

CPT:

81420

Provides risk assessment for the most common autosomal trisomies.  Appropriate for high-risk patients with singleton and twin pregnancies.

Test Details

Use

Provides risk assessment for the most common autosomal trisomies.  Appropriate for high-risk patients with singleton and twin pregnancies.

Synonyms

Cell-free Fetal DNA Trisomy Testing

Test Includes

Screening for T21, T18, and T13 chromosomal aneuploidies

Methodology

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

Pregnancy Week

0–13 Weeks
14–21 Weeks

Specimen Requirements

Specimen

Whole blood

Volume

10 mL

Minimum Volume

7 mL

Container

Use only the black and tan capped (Streck) tube from the informaSeq kit

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).

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

Storage Instructions

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.

Additional Information

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.

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 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).