Targeted Variant, Fetal Analysis
CPT:
Contact CPT coding department at 800-222-7566, ext. 6-8400.
Synonyms
- Family testing
- Known variant analysis
- Mutation specific sequencing
- MUTSEQ
Test Includes
This test includes all genes included in any Inheritest® or GeneSeq® Cardio panel except CYP21A, FMR1, HBA1/HBA2 and SMN1.
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This test includes all genes included in any Inheritest® |
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This test includes all 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.
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.
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
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 known variants in genes included in any Inheritest® or GeneSeq® Cardio panel except CYP21A, FMR1, HBA1/HBA2 and SMN1.
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This test is used for prenatal diagnosis for pregnancies at risk for known variants in genes included in any Inheritest® |
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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. |
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 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.
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
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