Test Catalog

Test Id : CFTRZ

CFTR Gene, Full Gene Analysis, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) and a negative targeted mutation analysis for the common mutations

 

Identification of mutations in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis)

 

Identification of mutations in individuals where detection rates by targeted mutation analysis are low or unknown for their ethnic background

 

Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy

 

This is not the preferred genetic test for carrier screening or initial diagnosis. For these situations, order CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test is not the preferred first-tier molecular test for carrier screening or diagnosis. It is used to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) when CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies is negative or uninformative.

 

This test includes next-generation sequencing to evaluate for mutations in the CFTR gene. Sanger sequencing may be performed to confirm detected variants.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing (when appropriate) and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

CFTR Gene, Full Gene Analysis

Aliases
Lists additional common names for a test, as an aid in searching

CFTRM

CBAVD (Congenital Bilateral Absence of the Vas deferens)

Congenital Bilateral Absence of the Vas deferens (CBAVD)

Cystic Fibrosis (CF)

Cystic Fibrosis Transmembrane Conductance

Pancreatitis

Next Gen Sequencing Test

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

For first-tier cystic fibrosis molecular testing, order CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Additional Information:

1. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.

2. Patient education brochures in English (T548) and Spanish (T563) are available upon request.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
Frozen
Refrigerated

Useful For
Suggests clinical disorders or settings where the test may be helpful

Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) and a negative targeted mutation analysis for the common mutations

 

Identification of mutations in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis)

 

Identification of mutations in individuals where detection rates by targeted mutation analysis are low or unknown for their ethnic background

 

Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy

 

This is not the preferred genetic test for carrier screening or initial diagnosis. For these situations, order CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test is not the preferred first-tier molecular test for carrier screening or diagnosis. It is used to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) when CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies is negative or uninformative.

 

This test includes next-generation sequencing to evaluate for mutations in the CFTR gene. Sanger sequencing may be performed to confirm detected variants.

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. Clinical diagnosis is generally made based on these features, combined with a positive sweat chloride test or positive nasal potential difference. CF can also have an atypical presentation and may manifest as congenital bilateral absence of the vas deferens (CBAVD), chronic idiopathic pancreatitis, bronchiectasis, or chronic rhinosinusitis. Several states have implemented newborn screening for CF, which identifies potentially affected individuals by measuring immunoreactive trypsinogen in a dried blood specimen collected on filter paper.

 

If a clinical diagnosis of CF has been made, molecular testing for common CF mutations is available. To date, over 1,500 mutations have been described within the CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, deltaF508, accounts for approximately 67% of the mutations worldwide and approximately 70% to 75% in the North American Caucasian population. Most of the remaining mutations are rather rare, although some show a relatively higher prevalence in certain ethnic groups or in some atypical presentations of CF, such as isolated CBAVD.

 

The recommended approach for confirming a CF diagnosis or detecting carrier status begins with molecular tests for the common CF mutations (eg, CFP / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies). This test, CFTR Gene, Full Gene Analysis, Varies may be ordered if 1 or both disease-causing mutations are not detected by the targeted mutation analysis. Full gene analysis, through sequencing and dosage analysis of the CFTR gene, is utilized to detect private mutations. Together, full gene analysis of the CFTR gene and deletion/duplication analysis identify over 98% of the sequence variants in the coding region and splice junctions.

 

Of note, FDA guidance has indicated that CFTR potentiator or combination chemical chaperone/potentiator therapies may improve clinical outcomes for patients with a clinical diagnosis of CF and at least 1 copy of a small subset of mutations. If one of the mutations associated with an FDA-approved therapy is identified, this information will be included in the interpretive report.

 

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

All detected alterations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

A small percentage of individuals who have a diagnosis of cystic fibrosis (CF) may have a mutation that is not identified by this method (eg, promoter mutations, deep intronic alterations). The absence of a mutation(s), therefore, does not eliminate the possibility of positive carrier status or the diagnosis of CF. For carrier testing, it is important to first document the presence of a cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation in an affected family member.

 

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

 

Technical limitations:

In some cases, DNA variants of undetermined significance may be identified.

 

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing.

 

Evaluation tools:

Multiple in-silico evaluation tools were used to assist in the interpretation of these results. These tools are updated regularly; therefore, changes to these algorithms may result in different predictions for a given alteration. Additionally, the predictability of these tools for the determination of pathogenicity is currently unvalidated.

 

Unless reported or predicted to cause disease, alterations in protein coding genes that do not result in an amino acid substitution are not reported. These and common polymorphisms identified for this patient are available upon request.

 

Reclassification of Variants-Policy:

All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance. At this time, it is not standard practice for the laboratory to systematically review likely pathogenic alterations or variants of uncertain significance that have been previously detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Rosenstein BJ, Zeitlin PL: Cystic fibrosis. Lancet 1998 Jan 24;351(9098):277-282

3. Strom CM, Huang D, Chen C, et al: Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. Genet Med 2003 Jan-Feb;5(1):9-14

4. De Boeck K, Munck A, Walker S, et al: Efficacy and safety of ivacaftor in patients with Cystic Fibrosis and the G551D gating mutation. J Cyst Fibros 2014 Dec;13(6):674-680 doi: 10.1016/j.jcf.2014.09.005

5. Currier RJ, Sciortino S, Liu R, et al: Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing? Genet Med 2017 Oct;19(10):1159-1163

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Next-generation sequencing is performed to test for the presence of a mutation in all coding regions, and intron/exon boundaries of the CFTR gene. Additionally, sequence analysis for genomic regions encompassing select clinically relevant intronic mutations within the CFTR gene is performed, and gene dosage analysis (multiplex ligation-dependent probe amplification) is used to test for the presence of large deletions and duplications in this gene.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Varies

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

14 to 20 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81223

81222

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CFTRZ CFTR Gene, Full Gene Analysis 90256-9
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
53784 Result Summary 50397-9
53785 Result 82939-0
53786 Interpretation 69047-9
53787 Additional Information 48767-8
53788 Specimen 31208-2
53789 Source 31208-2
53790 Released By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports