GeneSeq® PLUS, Fetal Analysis

TEST: 482389
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CPT: Contact CPT coding department at 800-222-7566, ext. 6-8400.
Updated on 07/22/2024
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Synonyms

  • Full gene sequencing
  • gene specific sequencing

Test Includes

This test includes all genes included in any Inheritest® or GeneSeq®: Cardio panel except SMN1 and FMR1.

Special Instructions

The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s) will result in testing delays.

Labcorp clients with 8-digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6-digit client/subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cord blood, must be accompanied by a maternal blood or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen.

The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s)will result in testing delays. Variants of uncertain significance (VUS) will be reported unless VUS opt out is indicated on the requisition.

Labcorp clients with 8-digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6-digit client/subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cord blood, must be accompanied by a maternal blood, PurFlock buccal swab kit or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen.

The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s) will result in testing delays.

Labcorp clients with 8-digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6-digit client/subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cord blood, must be accompanied by a maternal blood or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen.

Expected Turnaround Time

14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests. If culture is needed, an additional 14 - 21 days may be required. Additional culture fee may be applied.)

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS

    Specimen Requirements

    Specimen

    Amniotic fluid or chorionic villus sample (CVS) or cultured cells or cord blood (Direct amniotic fluid or CVS specimen may be submitted; additional culture fee may be applied.)

    Volume

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: two confluent T-25 flasks or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: two confluent T-25 flasks or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: two confluent T-25 flasks or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: two confluent T-25 flasks or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: two confluent T-25 flasks or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)

    Minimum Volume

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: two confluent T-25 flasks or 3 mL cord blood

    Container

    Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes

    Collection

    Standard sterile techniques; transfer aseptically to sterile tubes. Amniotic fluid: Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.

    Storage Instructions

    Maintain specimen at room temperature. Do not freeze.

    Stability Requirements

    Please ship expedited at room temperature.

    Causes for Rejection

    Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

    Test Details

    Use

    This test is used for prenatal diagnosis for pregnancies at risk for genes included in any Inheritest® or GeneSeq®: Cardio panel except for SMN1 and FMR1. To order single gene analysis, use Spinal Muscular Atrophy (SMA), Fetal Analysis [481651] and Fragile X Syndrome, Fetal Analysis [481718].

    Limitations

    Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

    Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

    This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

    Methodology

    Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

    Maternal cell contamination analysis (MCC): Analysis of short tandem repeat markers by multiplex fluorescent polymerase chain reaction (PCR) and capillary electrophoresis.

    References

    Rehder C, Bean LJH, Bick D, et al. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1399-1415.33927380
    Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424.25741868

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    482389 GeneSeq PLUS, Fetal Analysis 482371 Test Detail 19102-3
    482389 GeneSeq PLUS, Fetal Analysis 482372 Ethnicity 42784-9
    482389 GeneSeq PLUS, Fetal Analysis 482373 Specimen Type 31208-2
    482389 GeneSeq PLUS, Fetal Analysis 482374 Genetic Counselor 89993-0
    482389 GeneSeq PLUS, Fetal Analysis 482375 Indication 42349-1
    482389 GeneSeq PLUS, Fetal Analysis 482376 Fetus ID 11951-1
    482389 GeneSeq PLUS, Fetal Analysis 482377 Result: 50397-9
    482389 GeneSeq PLUS, Fetal Analysis 482378 Interpretation 53039-4
    482389 GeneSeq PLUS, Fetal Analysis 482379 General Comments 8262-8
    482389 GeneSeq PLUS, Fetal Analysis 482380 MCC, Maternal Control 59266-7
    482389 GeneSeq PLUS, Fetal Analysis 482381 Recommendations 62385-0
    482389 GeneSeq PLUS, Fetal Analysis 482382 Additional ClinicalInformation 55752-0
    482389 GeneSeq PLUS, Fetal Analysis 482383 Comments 8251-1
    482389 GeneSeq PLUS, Fetal Analysis 482384 Methods/Limitations 49549-9
    482389 GeneSeq PLUS, Fetal Analysis 482385 References 75608-0
    482389 GeneSeq PLUS, Fetal Analysis 482386 Director Review/Release 72486-4
    482389 GeneSeq PLUS, Fetal Analysis 482387 PDF 51969-4

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