Test Catalog

Test Id : CFP

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Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies

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Overview

Test Catalog

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

Confirmation of a clinical diagnosis of cystic fibrosis

 

Risk refinement via carrier screening for individuals in the general population

 

Prenatal diagnosis or familial variant testing when the familial variants are included in the 106-variant panel listed in Clinical Information

 

Risk refinement via carrier screening for individuals with a family history when familial mutations are not available

 

Identification of patients who may respond to CFTR potentiator therapy

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

This 106-variant panel includes the 23 variants recommended by the American College of Medical Genetics and Genomics (ACMG).

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

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. 

 

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions.

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

Multiplex Polymerase Chain Reaction (PCR)/Mass Array

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

Cystic Fibrosis Mutation Panel

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

CF

CFPB

CFTR (Cystic Fibrosis Transmembrane Conductance)

Congenital Bilateral Absence of the Vas deferens

Cystic Fibrosis Transmembrane Conductance Regulator

Cystic Fibrosis, Prenatal Diagnosis

Pancreatitis

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

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. 

 

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions.

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

If familial variants are not included in this 106-variant panel, order FMTT / Familial Mutation, Targeted Testing, Varies

Additional Testing Requirements

All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

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

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

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.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 2.5 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

 

Prenatal Specimens

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. Central time on Friday in order to be processed appropriately.

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional information:

1. A separate culture charge will be assessed under CULAF / Culture for Genetic Testing, Amniotic Fluid. An additional 2 to 3 weeks is required to culture amniotic fluid before genetic testing can occur.

2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

Additional information:

1. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Genetic Test. An additional 2 to 3 weeks is required to culture chorionic villi before genetic testing can occur.

2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information: All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Blood spot

Supplies: Card - Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper or Blood Spot Collection Card

Specimen Volume: 5 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient 1 year of age and older is a fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).

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

Amniotic fluid: 10 mL

Blood: 0.5 mL

Chorionic Villi: 5 mg

Blood Spots: 5 punches, 3-mm diameter

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 Varies (preferred)

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

Confirmation of a clinical diagnosis of cystic fibrosis

 

Risk refinement via carrier screening for individuals in the general population

 

Prenatal diagnosis or familial variant testing when the familial variants are included in the 106-variant panel listed in Clinical Information

 

Risk refinement via carrier screening for individuals with a family history when familial mutations are not available

 

Identification of patients who may respond to CFTR potentiator therapy

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

This 106-variant panel includes the 23 variants recommended by the American College of Medical Genetics and Genomics (ACMG).

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

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. 

 

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions.

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. The incidence of CF varies markedly among different populations, as does the variant detection rate for the variant screening assay. To date, over 1500 variants have been described within the CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR). The most common variant, deltaF508, accounts for approximately 67% of the variants worldwide and approximately 70% to 75% in a North American White population. Most of the remaining variants are rather rare, although some show a relatively higher prevalence in certain ethnic groups or in some atypical presentations of CF such as congenital bilateral absence of the vas deferens (CBAVD). Variants detected by this assay include the 23 variants recommended by the American College of Medical Genetics and Genomics as well as 83 other variants.

 

Of note, CFTR potentiator therapies may improve clinical outcomes for patients with a clinical diagnosis of CF and at least one copy of the G178R, G551S, G551D, S549N, S549R, G1244E, S1251N, S1255P, or G1349D variant. The G178R, S549N, S549R, S551D, and S1251N variants are included in this test.

 

These 106 variants account for approximately 91% of CF chromosomes in a Northern European White population. Detection rates for several ethnic and racial groups are listed in the table below. Note that interpretation of test results and risk calculations are also dependent on clinical information and family history.

 

Racial or ethnic group

Carrier frequency

Variant detection rate*

 African American

1/65

81%

 Ashkenazi Jewish

1/25

97%

 Asian American (excluding individuals of Japanese ancestry)

1/90

54%

 Mixed European

1/25

82%

 Eastern European

1/25

77%

 French Canadian

1/25

91%

 Hispanic American

1/46

82%

 Northern European

1/25

91%

 Southern European

1/25

79%

 

*Rates are for classical CF. Rates are lower for atypical forms of CF and for CBAVD.

 

CFTR variants listed below are included in this panel.

Deletion exons 2-3

Exon 11: R553X

Intron 2: 296+2 T>A

Exon 11: A559T

Exon 3: E60X

Exon 11: R560T

Exon 3: R75X

Intron 11: 1811+1.6kb A>G

Exon 3: G85E

Intron 11: 1812-1 G>A

Exon 3: 394_395delTT

Intron 12: 1898+1 G>A

Intron 3: 405+1 G>A

Intron 12: 1898+1 G>T

Intron 3: 406-1 G>A

Intron 12: 1898+1 G>C

Exon 4: E92X

Intron 12: 1898+5 G>T

Exon 4: 444delA

Exon 12: P574H

Exon 4: 457TAT>G

Exon 13: 1949del84

Exon 4: R117H

Exon 13: 2043delG

Exon 4: R117C

Exon 13: 2055del9>A

Exon 4: Y122X

Exon 13: 2105del13ins5

Exon 4: 574delA

Exon 13: 2108delA

Intron 4: 621+1 G>T

Exon 13: 2143delT

Exon 5: 663delT

Exon 13: 2183_2184delAAinsG

Exon 5: G178R

Exon 13: 2184delA

Intron 5: 711+1 G>T

Exon 13: 2184insA

Intron 5: 711+5 G>A

Exon 13: R709X

Intron 5: 712-1 G>T

Exon 13: K710X

Exon 6a: H199Y

Exon 13: 2307insA

Exon 6a: P205S

Exon 13: R764X

Exon 6a: L206W

Intron 14b: 2789+5 G>A

Exon 6a: 852del22

Exon 15: 2869insG

Exon 6b: 935delA

Exon 15: Q890X

Exon 6b: 936delTA

Intron 16: 3120+1 G>A

Exon 7: deltaF311

Exon 17a: 3171delC

Exon 7: 1078delT

Exon 17a: 3199del6

Exon 7: G330X

Exon 17b: R1066C

Exon 7: R334W

Exon 17b: W1089X (TGG>TAG)

Exon 7: T338I

Exon 17b: Y1092X (C>G)

Exon 7: R347P

Exon 17b: Y1092X (C>A)

Exon 7: R347H

Exon 17b: M1101K

Exon 7: R352Q

Exon 17b: M1101R

Exon 7: Q359K

Exon 18: D1152H

Exon 7: T360K

Exon 19: R1158X

Exon 8: 1288insTA

Exon 19: R1162X

Exon 9: A455E

Exon 19: 3659delC

Exon 10: S466X (C>A)

Exon 19: 3667del4

Exon 10: S466X (C>G)

Exon 19: S1196X

Exon 10: G480C

Exon 19: W1204X (TGG>TAG)

Exon 10: Q493X

Exon 19: 3791delC

Exon 10: deltaI507

Exon 19: Q1238X

Exon 10: deltaF508

Intron 19: 3849+10kb C>T

Exon 10: 1677delTA

Exon 20: 3876delA

Exon 10: C524X

Exon 20: S1251N

Intron 10: 1717-1 G>A

Exon 20: S1255X

Exon 11: G542X

Exon 20: 3905insT

Exon 11: S549N

Exon 20: W1282X (TGG>TGA)

Exon 11: S549R (T>G)

Exon 21: 4016insT

Exon 11: G551D

Exon 21: N1303K (C>A)

Exon 11:Q552X

Exon 21: N1303K (C>G)

 

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

An interpretive report will be provided.

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

This assay will not detect all of the variants that cause cystic fibrosis. Therefore, the absence of a detectable variant does not rule out the possibility that an individual is a carrier of or affected with this disease.

 

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

 

Rare alterations (ie, 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 rare cases, DNA alterations of undetermined significance may be identified.

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

1. Quint A, Lerer I, Sagi M, Abeliovich D: Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. Am J Med Genet A. 2005;136(3):246-248. doi: 10.1002/ajmg.a.30823

2. Bobadilla JL, Macek M, Fine FP, Farrell PM: Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat. 2002;19(6):575-606. doi: 10.1002/humu.10041

3. Sugarman EA, Rohlfs EM, Silverman LM, Alitto BA: CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med. 2004;6(5):392-399. doi: 10.1097/01.gim.0000139503.22088.66

4. Watson MS, Cutting GR, Desnick RJ, et al: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6(5):387-391. doi: 10.1097/01.gim.0000139506.11694.7c

5. Heim RA, Sugarman EA, Allitto BA: Improved detection of cystic fibrosis mutations in the heterozygous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001;3(3):168-176. doi: 10.1097/00125817-200105000-00004

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

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

The multiplex polymerase chain reaction (PCR)-based assay utilizing the Agena Mass Array platform is used to detect 106 variants, including the 23 variants specified in the American College of Medical Genetics and Genomics (ACMG) standards for population-based carrier screening. The variants are as follows: deltaF508, deltaI507, G542X, G85E, R117H, W1282X (TGG>TGA), 621+1 G>T, 711+1 G>T, N1303K (C>A), N1303K (C>G), R334W, R347P, A455E, 1717-1 G>A, R553X, R560T, G551D, 1898+1 G>A, 2184delA, 2789+5 G>A, 3120+1 G>A, R1162X, 3659delC, and 3849+10kb C>T, the deletion of exons 2-3, 296+2 T>A, E60X, R75X, 394_395delTT, 405+1 G>A, 406-1 G>A, E92X, 444delA, 457TAT>G, R117C, Y122X, 574delA, 663delT, G178R, 711+5 G>A, 712-1 G>T, H199Y, P205S, L206W, 852del22, 935delA, 936delTA, deltaF311, 1078delT, G330X, T338I, R347H, R352Q, Q359K, T360K, 1288insTA, S466X (C>A), S466X (C>G), G480C, Q493X, 1677delTA, C524X, S549N, S549R (T>G), Q552X, A559T, 1811+1.6kb A>G, 1812-1 G>A, 1898+1 G>T, 1898+1 G>C, 1898+5G>T, P574H, 1949del84, 2043delG, 2055del9>A, 2105del13ins5, 2108delA, 2143delT, 2183_2184delAAinsG, 2184insA, R709X, K710X, 2307insA, R764X, Q890X, 2869insG, 3171delC, 3199del6, R1066C, W1089X (TGG>TAG), Y1092X (C>G), Y1092X (C>A), M1101K, M1101R, D1152H, R1158X, 3667del4, S1196X, W1204X (TGG>TAG), 3791delC, Q1238X, 3876delA, S1251N, S1255X, 3905insT and 4016insT. Poly T determination and confirmatory testing of homozygous results are performed as reflex tests when appropriate.(Farkas DH, Miltgen NE, Stoerker J, et al: The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model. J Molec Diagn. 2010;12:611-619. doi: 10.2353/jmoldx.2010.090233)

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.

Batched, performed most weekdays

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.

6 to 7 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.

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.

81220-CFTR

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

88235-Amniotic fluid culture (if appropriate)

81265-Maternal cell contamination (if appropriate)

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