Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal
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
Specimen Required
Amniotic fluid OR cultured amniocytes OR cultured CVS: Two T-25 flasks at 80 percent confluency.
AND maternal whole blood: lavender (K2 or K3EDTA), 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.
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.
AND maternal whole blood: 2 mL whole blood (min: 1 mL).
Amniotic fluid, cultured amniocytes, or cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal whole blood: Room temperature.
Frozen specimens in glass collection tubes.
Patient History Form is available on the ARUP website or by contacting ARUP Client Services.
Fetal Specimen: Ambient 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
Maternal whole blood: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Methodology
Matrix-Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry/Fragment Analysis
Performed
Sun-Sat
Reported
7-10 days
If culture is required, an additional 1 to 2 weeks is required for processing time.
Reference Interval
By report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
Hotline History
Hotline History
CPT Codes
81220; 81265 Fetal Cell Contamination (FCC)
Components
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 |
Aliases
- Fetal CF screening test