Sign in →

Test ID CFP Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Useful For

Confirmation of a clinical diagnosis of cystic fibrosis

 

Risk refinement via carrier screening for individuals in the general population

 

Prenatal diagnosis or familial mutation testing when the familial mutations are included in the 106-mutation panel listed above (if familial mutations are not included in the 106-mutation panel, order FMTT / Familial Mutation, Targeted Testing)

 

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

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

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.

Method Name

The multiplex polymerase chain reaction (PCR)-based assay utilizing the Agena Mass ARRAY platform is used to test for mutations associated with cystic fibrosis (106-mutation panel).

Reporting Name

Cystic Fibrosis Mutation Panel

Specimen Type

Varies

Forms:

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

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

 

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

 

Specimen preferred to arrive within 96 hours of collection.

 

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.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

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. CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

 

Specimen Type: Chorionic villi

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

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

 

Acceptable:

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

 

Specimen Type: Blood spot

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Ahlstrom 226 filter paper, or Blood Spot Collection Card (T493)

Specimen Volume: 5 Blood Spots on collection card (Whatman Protein Saver 903 Paper; Ahlstrom 226 filter paper; or Blood Spot Collection Card, T493)

Collection Instructions:

1. An alternative blood collection option for a patient >1 year of age is finger stick.

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

Specimen Minimum Volume

Amniotic fluid: 10 mL; Blood: 0.5 mL; Chorionic Villi: 5 mg; Blood Spots: 5 punches, 3-mm diameter

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Clinical Information

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 mutation detection rate for the mutation screening assay. 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 a 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 congenital bilateral absence of the vas deferens (CBAVD). Mutations detected by the assay performed in the Mayo Clinic Molecular Genetics Laboratory include the 23 mutations recommended by the American College of Medical Genetics as well as 83 other mutations.

 

Of note, CFTR potentiator therapies may improve clinical outcomes for patients with a clinical diagnosis of CF and at least 1 copy of the G178R, G551S, G551D, S549N, S549R, G1244E, S1251N, S1255P, or G1349D mutation. The G178R, S549N, S549R, S551D, and S1251N mutations are included in this test.

 

These 106 mutations account for approximately 91% of CF chromosomes in a Northern European Caucasian 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

Mutation 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 mutations 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

An interpretive report will be provided.

Cautions

This assay will not detect all of the mutations that cause cystic fibrosis. Therefore, the absence of a detectable mutation 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 our interpretation of results may occur if information given is inaccurate or incomplete.

 

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

 

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Day(s) Performed

Monday through Friday; 2 p.m.

Report Available

6 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

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 U.S. Food and Drug Administration.

CPT Code Information

81220-CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)

 

Fibroblast Culture for Genetic Test

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

88240-Cryopreservation (if appropriate)

 

Amniotic Fluid Culture/Genetic Test

88235-Tissue culture for amniotic fluid (if appropriate)

88240-Cryopreservation (if appropriate)

 

Maternal Cell Contamination, B

81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)

NY State Approved

Yes