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

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


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 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.

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

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

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

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

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

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

Additional Information:

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

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

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

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 Special Container
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.

Interpretation

An interpretive report will be provided.

Clinical Reference

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

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

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

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

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

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

Day(s) and Time(s) Performed

Batched, performed most weekdays

Analytic Time

6 days

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

 

Fibroblast Culture for Genetic Test

88233-(if appropriate)

88240-(if appropriate)

 

Amniotic Fluid Culture/Genetic Test

88235-(if appropriate)

88240-Cryopreservation (if appropriate)

 

Maternal Cell Contamination, B

81265-(if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CFP Cystic Fibrosis Mutation Panel 38404-0

 

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 18771-6

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

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

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular