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Targeted Variant, Fetal Analysis

Test Number 482534
Test number copied
CPT

Contact CPT coding department at 800-222-7566, ext. 6-8400.
Synonyms
  • Family testing
  • Known variant analysis
  • Mutation specific sequencing
  • MUTSEQ

Test Details

Methodology

Next Generation Sequencing: Identifies known, familial 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.

Result 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.

Test Includes

This test includes all genes included in any Inheritest® or GeneSeq® Cardio panel except CYP21A, FMR1, HBA1/HBA2 and SMN1.

Use

This test is used for prenatal diagnosis for pregnancies at risk for known variants in genes included in any Inheritest® or GeneSeq® Cardio panel except CYP21A, FMR1, HBA1/HBA2 and SMN1.

Special Instructions

The specific gene and variant(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene and variant will result in testing delays. Please include a copy of the previously tested family member's laboratory report for documentation.

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.

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.

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: 10 mL; CVS: 10 mg; amniotic fluid and CVS culture: one confluent T-25 flask or 4 mL cord blood (If amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures.)

Minimum Volume

Amniotic fluid: 10 mL; CVS: 10 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 Instructions

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

Stability Requirements

Please ship expedited at room temperature.

Storage Instructions

Maintain specimen at room temperature. Do not freeze.

Causes for Rejection

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

References

Nagan, M, Faulkner NE, Curtis C, et al. Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses a report of the association for molecular pathology. J Mol Diagn. 2011 Jan;13(1):7-11.21227389
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
482534 Targeted Variant, Fetal 50397-9 482517 Ethnicity 42784-9
482534 Targeted Variant, Fetal 50397-9 482518 Specimen Type 31208-2
482534 Targeted Variant, Fetal 50397-9 482519 Genetic Counselor 89993-0
482534 Targeted Variant, Fetal 50397-9 482520 Indication 42349-1
482534 Targeted Variant, Fetal 50397-9 482521 Fetus ID 11951-1
482534 Targeted Variant, Fetal 50397-9 482522 Result: 50397-9
482534 Targeted Variant, Fetal 50397-9 482523 Interpretation 53039-4
482534 Targeted Variant, Fetal 50397-9 482524 General Comments 8262-8
482534 Targeted Variant, Fetal 50397-9 482525 MCC, Maternal Control 59266-7
482534 Targeted Variant, Fetal 50397-9 482526 Recommendations 62385-0
482534 Targeted Variant, Fetal 50397-9 482527 Additional ClinicalInformation 55752-0
482534 Targeted Variant, Fetal 50397-9 482528 Comments 8251-1
482534 Targeted Variant, Fetal 50397-9 482529 Methods/Limitations 49549-9
482534 Targeted Variant, Fetal 50397-9 482530 References 75608-0
482534 Targeted Variant, Fetal 50397-9 482531 Director Review/Release 72486-4
482534 Targeted Variant, Fetal 50397-9 482532 PDF 51969-4
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482517
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482518
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482519
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482520
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482521
Result Code NameFetus ID
UofM
Result LOINC11951-1
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482522
Result Code NameResult:
UofM
Result LOINC50397-9
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482523
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482524
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482525
Result Code NameMCC, Maternal Control
UofM
Result LOINC59266-7
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482526
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482527
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482528
Result Code NameComments
UofM
Result LOINC8251-1
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482529
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482530
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482531
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code482534
Order Code NameTargeted Variant, Fetal
Order Loinc50397-9
Result Code482532
Result Code NamePDF
UofM
Result LOINC51969-4