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Test Code CF Panel Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Important Note

This test involves targeted analysis for the106-mutation panel listed below.  For full gene sequencing please see: CFTR Gene, Full Gene Analysis. Please note that some specimen requirements are different between the two tests.

Reporting Name

Cystic Fibrosis 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

Seattle Children's Hospital Note:



Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

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 Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.


Submit only 1 of the following specimens:


Specimen Type: Whole blood


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



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

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


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

Additional Information:

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

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

Specimen Type


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

Day(s) and Time(s) Performed

Monday through Friday; 2 p.m.

Performing Laboratory

Mayo Medical Laboratories in Rochester

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).

Method Description

The multiplex PCR-based assay utilizing the Agena Mass Array platform is used to detect 106 mutations, including the 23 mutations specified in the American College of Medical Genetics (ACMG) standards for population-based carrier screening. The mutations 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 mutations are detected. 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)

Reference Values

An interpretive report will be provided.

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)

Seattle Children's Hospital Note:

(Updated by dstern 8/3/15)

LOINC Code Information

Result ID Test Result Name Result LOINC Value
52863 Result Summary 50397-9
52864 Result 38404-0
52865 Interpretation 69047-9
53878 Additional Information 48767-8
52866 Specimen 31208-2
52867 Source 31208-2
52868 Method 49549-9
52869 Released By No LOINC Needed

Reject Due To

No specimen should be rejected.

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.


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