Cystic Fibrosis (CF) Profile, 97 Mutations, CFplus®

TEST: 450020

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CPT: 81220

Updated on 11/16/2023

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Synonyms

CF Carrier
CF Testing

Test Includes

Testing for 97 cystic fibrosis mutations, including all of the mutations currently recommended by the ACMG and ACOG

Special Instructions

Prenatal testing: Labcorp clients should call 800-345-4363 and Integrated Genetics clients should call 800-848-4436 to speak to a laboratory genetic coordinator before collecting any specimens. In some circumstances, specimens from other family members may be required. All prenatal specimens (including cord blood) must be accompanied by a maternal blood specimen for maternal cell contamination studies.

Expected Turnaround Time

7 - 10 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood or Labcorp buccal swab kit (kit contains collection instructions)

Volume

4 mL whole blood or Labcorp buccal swab kit

Container

Lavender-top (EDTA) tube, yellow-top (ACD-A) tube, pink-top (EDTA) tube, tan-top (EDTA) tube or Labcorp buccal swab kit

Storage Instructions

Maintain at room temperature or refrigerate at 4°C.

Causes for Rejection

Frozen or hemolyzed whole blood specimen; quantity not sufficient for analysis; one buccal swab; improper container; wet buccal swab

Test Details

Use

Determine affected or carrier status for 97 CF gene mutations. This assay may be used for individuals whose family history or ethnicity requires testing for less common mutations. Also available for routine screening of pregnant couples. Discriminates between ΔF508 and the following polymorphisms: F508C, I506V, and I507V.

Limitations

False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, erroneous representation of family relationships, or contamination of a fetal sample with maternal cells.

Methodology

DNA is isolated from the sample and tested for the 97 CF mutations listed. Regions of the CFTR gene are amplified enzymatically and subjected to a solution-phase multiplex allele-specific primer extension with subsequent hybridization to a bead array and fluorescence detection. Some mutations are then specifically identified by bidirectional dideoxysequencing.

References

Abeliovich D, Lavon IP, Lerer I, et al. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet. 1992 Nov; 51(5):951-956. 1384328

Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet Med. 2001 May-Jun; 3(3):168-176. 11388756

Kerem B, Chiba-Falek O, Kerem E. Cystic fibrosis in Jews: Frequency and mutation distribution. Genet Test. 1997; 1(1):35-39. 10464623

Orgad S, Neumann S, Loewenthal R, Netanelov-Shapira I, Gazit E. Prevalence of cystic fibrosis mutations in Israeli Jews. Genet Test. 2001 Spring; 5(1):47-52. 11336401

Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med. 2002 Mar-Apr; 4(2):90-94. 11882786

LOINC® Map

Order Code	Order Code Name	Order Loinc	Result Code	Result Code Name	Result LOINC
450020	Cystic Fibrosis Mutation 97	21656-4	450017	Ethnicity:	42784-9
450020	Cystic Fibrosis Mutation 97	21656-4	450018	Indication:	42349-1
450020	Cystic Fibrosis Mutation 97	21656-4	450019	Results:	21654-9
450020	Cystic Fibrosis Mutation 97	21656-4	450021	Interpretation:	53039-4
450020	Cystic Fibrosis Mutation 97	21656-4	450022	Comments:	38404-0
450020	Cystic Fibrosis Mutation 97	21656-4	450023	Mutation Detection Rates	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450024	African American Detect. Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450025	Ashkenazi Jewish Detect. Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450026	Asian Detection Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450027	Caucasian Detection Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450028	Hispanic Detection Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450029	Jewish,non-Ashkenazi Det. Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450030	Other or Mixed Ethnicity Rate	N/A
450020	Cystic Fibrosis Mutation 97	21656-4	450031	Method/Limitations:	49549-9
450020	Cystic Fibrosis Mutation 97	21656-4	450032	Director:	72486-4
450020	Cystic Fibrosis Mutation 97	21656-4	450046	Mutations Analyzed:	21656-4
450020	Cystic Fibrosis Mutation 97	21656-4	450047	Cystic Fibrosis Mutation PDF	51969-4
450020	Cystic Fibrosis Mutation 97	21656-4	451374	Cystic Fibrosis Mutation 97	38404-0

CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2023, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf

Cystic Fibrosis (CF) Profile, 97 Mutations, CFplus®

Synonyms

Test Includes

Special Instructions

Expected Turnaround Time

Related Documents

Specimen Requirements

Specimen

Volume

Container

Storage Instructions

Causes for Rejection

Test Details

Use

Limitations

Methodology

References

LOINC® Map

For Providers