Cystic Fibrosis (CFTR) Expanded Variant Panel

2013661
copy
 

Copy Utility


emailprint
Example Reports
Heterozygous
Negative

Icon

Informed Consent for Genetic Testing (required for NY patients)

Icon

Patient History Form for Cystic Fibrosis (CF) Testing

Icon

Additional Technical Information

Ordering Recommendation

Carrier screening for expectant individuals and those planning a pregnancy AND diagnostic testing for individuals with symptoms of classic CF.

Mnemonic

CF VAR

Methodology

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

Performed

Sun-Sat

Reported

5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

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

Remarks
Stability

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)

Note

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

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/16/2022
X
X
X
X
X
N/A

CPT Codes

81220

Are you an ARUP Client? Click here for your pricing.

Components

Component Test Code* Component Chart Name LOINC
2013675 Cystic Fibrosis, Allele 1 42938-1
2013676 Cystic Fibrosis, Allele 2 42939-9
2013677 CF Expanded Variant Panel Interp 21656-4
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.

Aliases

  • CF DNA Analysis
  • CF Gene Mutation Panel
  • CF Molecular Genetic Testing
  • CF population carrier screening test
  • Classic CF
  • Cystic Fibrosis Genotyping
Cystic Fibrosis (CFTR) Expanded Variant Panel