Cystic Fibrosis (CFTR) Expanded Variant Panel with Reflex to Sequencing and Reflex to Deletion/Duplication

2013664
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Example Reports
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Additional Technical Information

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Patient History For Cystic Fibrosis (CF) Testing

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).

Mnemonic

CFVAR COMP

Methodology

Polymerase Chain Reaction/ Fluorescence Monitoring/Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Sun-Sat

Reported

7-35 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation
Collect

Lavender (K2EDTA), pink (K2EDTA).

Specimen Preparation

Transport 5 mL whole blood. (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin, yellow (ACD solution A or B), 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

If less than two pathogenic variants are identified by the Cystic Fibrosis (CFTR) Expanded Variant Panel, then CFTR gene sequencing will be performed. Following sequencing, if less than two pathogenic variants are identified, then CFTR deletion/duplication analysis will be performed. Additional charges will apply for each tier performed.

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
05/17/2021
X
05/18/2020
X
N/A

CPT Codes

81220; if reflexed to Sequencing, add 81223; if reflexed to Del/Dup, add 81222

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Components

Component Test Code* Component Chart Name LOINC
2013675 Cystic Fibrosis, Allele 1 42938-1
2013676 Cystic Fibrosis, Allele 2 42939-9
2013682 CF 165 Var. w/Rflx to Seq/DD, Interp
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
  • CFTR
  • CFTR-RD
  • CFTR-related disorder
  • CFTR-related metabolic syndrome
  • CRMS
Cystic Fibrosis (CFTR) Expanded Variant Panel with Reflex to Sequencing and Reflex to Deletion/Duplication