Ordering Recommendation

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




Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF)




7-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Fetal Specimen: Two T-25 flasks of cultured amniocytes at 80 percent confluency. *If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787.
Maternal Whole Blood Specimen:
Lavender (EDTA), pink (K2EDTA).

Specimen Preparation

Cultured Amniocytes: Fill flasks with culture media. Backup cultures must be retained at the client's institution until testing is complete.
Maternal Whole Blood Specimen: Transport 3 mL whole blood. (Min. 1 mL)

Storage/Transport Temperature

Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Whole Blood Specimen: Refrigerated.

Unacceptable Conditions

Maternal Whole Blood Specimen: Plasma or serum. Specimens collected in sodium heparin, yellow (ACD solution), or lithium heparin tubes. Frozen specimens in glass collection tubes.


Maternal whole blood sample is recommended for proper test interpretation; order Maternal Cell Contamination, Maternal Specimen. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.


Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen
: Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Refer to report.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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