Cystic Fibrosis (CF), 97 Variants, Fetal Analysis


CF testing

Test Details

Turnaround Time

8 - 14 days

If culture is needed, an additional 14-21 days may be required. Additional culture fee may be applied.


Prenatal diagnosis for pregnancies at risk for cystic fibrosis. Ninety-seven CFTR variants are included in this analysis.

Special Instructions

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 cordblood, 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.

Test Includes

This test includes the following gene: CFTR


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.


Cystic fibrosis: Next-generation sequencing to identify 97 variants in the CFTR gene.

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


Deignan JL, Astbury C, Cutting GR et al. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 22, 1288 (2020). PMID: 32404922

Ong T, Marshall SG, Karczeski BA, et al. Cystic Fibrosis and Congenital Absence of the Vas Deferens. 2001 Mar26 [Updated 2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. PMID: 20301428

Nagan, M, Faulkner NE, Curtis C, et al. Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses. J Mol Diagn 13, 7 (2011). PMID: 21227389

Specimen Requirements

Information on collection, storage, and volume


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


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

Minimum Volume

Amniotic fluid: 10 mL or CVS: 10 mg or amniotic fluid and CVS culture: one confluent T-25 flask or 3 mL cordblood


Amniotic fluid or CVS: Sterile plastic conical tube or T-25 flask.
Cordblood: Yellow-top (ACD-A) or lavendar-top (EDTA) tubes

Storage Instructions

Maintain specimen at room temperature. Do not freeze.

Causes for Rejection

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


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