informaSeq® Prenatal Test

informaSeq® Prenatal Test

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

Test No.

550746

Methodology

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

Turnaround Time

5-7 business days

CPT

81420

Disease

Down Syndrome

Trisomy 13

Trisomy 18

Pregnancy Week

0-13 Weeks

14-21 Weeks

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.

Test Includes

Screening for T21, T18, and T13 chromosomal aneuploidies

Use Statement

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

Additional Info

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).

Synonyms

Cell-free Fetal DNA Trisomy Testing

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. 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.

CPT Codes

The CPT codes included in this publication are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients; however, correct coding often varies from one carrier to another, and LabCorp may bill specific carriers using codes other than those shown. Clients who bill for services should verify the code(s) with the applicable payor to confirm that their use is appropriate in each case.

Profile Policy

LabCorp's policy is to provide physicians, in each instance, with the flexibility to choose appropriate tests to assure that the convenience of ordering test combinations/profiles does not prevent physicians who wish to order a test combination/profile from making deliberate informed decisions regarding which tests are medically necessary. All the tests offered in test combinations/profiles may be ordered individually using the LabCorp test request form.

Please remember that (1) when ordering tests for which Medicare or Medicaid reimbursement is sought, the physician should only order those tests that the physician believes are medically necessary for each patient, (2) that using a customized profile may result in ordering tests for which Medicare or Medicaid will deny payment, (3) that the physician should only order individual tests or a less inclusive profile where not all the tests in the customized test combination/profile are medically necessary for an individual patient, and (4) that the United States Department of Health and Human Services, Office of Inspector General, takes the position that a physician who orders medically unnecessary tests may be subject to civil penalties.

LabCorp encourages clients to contact their local LabCorp representative or LabCorp location if the testing configurations shown here do not meet individual needs for any reason, or if some other combination of procedures is desired.

Investigational Procedures

Some of the individual tests and profile test components listed in this Directory may be considered by Medicare or other insurance carriers as investigational procedures, and therefore, the test may not be payable by the carrier as a covered benefit for the patient. Medicare patients must be informed of this possibility when the physician orders tests that may fall into this category. Affected patients must be asked to sign an Advance Beneficiary Notice, agreeing to be financially responsible if the service is denied by the carrier. Additionally, for other insurance plans, physicians should inform the patient that the service(s) may not be covered by their private insurance plan and, if so, they will be financially responsible for payment. If the patient declines to accept financial responsibility, please do not order the test(s).

As with all clinical assays, results of these tests should be used only in conjunction with other medically established diagnostic elements (eg, symptoms, history, clinical impressions, results from other tests, etc). Physicians should use all the information available to them to diagnose and determine appropriate treatment for their patients. In order to obtain a current list of the procedures that may be considered investigational by Medicare or other insurance carriers, please contact your local LabCorp representative.