Ordering Recommendation

For use in individuals with suspected cystic fibrosis (CF). This test is NOT indicated for routine carrier screening. If individual is not symptomatic, order Cystic Fibrosis (CFTR) Expanded Variant Panel (2013661).

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Amniotic fluid
OR cultured amniocytes OR cultured CVS: Two T-25 flasks at 80 percent confluency.
AND whole blood for maternal cell contamination: lavender (EDTA), pink (K2EDTA), yellow (ACD solution A or B).

If the client is unable to culture, order test Cytogenetics Grow and Send (ARUP test code 0040182) in addition to this test and ARUP will culture upon receipt (culturing fees will apply). If you have any questions, contact ARUP's Genetics Processing at 800-522-2787 ext. 3301.

Specimen Preparation

Amniotic fluid: Transport 10 mL amniotic fluid in a sterile container (Min: 5 mL) OR cultured amniocytes OR cultured CVS: Fill flasks with culture media. Backup cultures must be retained at the client's institution until testing is complete.
Whole blood for maternal contamination: Transport 3 mL whole blood. (Min. 1 mL)

Storage/Transport Temperature

Amniotic fluid, cultured amniocytes, or cultured CVS: CRITICAL TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Whole blood for maternal cell contamination: Refrigerated.

Unacceptable Conditions

Frozen specimens in glass collection tubes.


Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.


Fetal Specimen: Ambient 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Whole blood for maternal cell contamination: Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month


Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry/Fragment Analysis




7-10 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)


The Cystic Fibrosis (CFTR) Expanded Variant Panel includes 23 pathogenic CFTR variants recommended by the American College of Medical Genetics for population carrier screening.

Hotline History


CPT Codes

81220; 81265 Fetal Cell Contamination (FCC)


Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
2013675 Cystic Fibrosis, Allele 1 42938-1
2013676 Cystic Fibrosis, Allele 2 42939-9
2013680 CF, Expanded Var Pan Fetal, Interp 38404-0
2013692 Cystic Fibrosis 5T Variant 21654-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Fetal CF screening test
Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal