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26338 Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies (CFP)

Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies (CFP)
Test Code: CFPSO
Synonyms/Keywords

​CF

CFPB

CFTR (Cystic Fibrosis Transmembrane Conductance)

Congenital Bilateral Absence of the Vas deferens

Cystic Fibrosis Transmembrane Conductance Regulator

Cystic Fibrosis, Prenatal Diagnosis

Pancreatitis

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 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​

Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Whole Blood​EDTA Lavender Top Tube (LTT)​ACD Yellow Top Tube or any anticoagulant​2.5 mL​0.5 mL
​Amniotic Fluid​Amniotic Fluid container​20 mL​10 mL
​Chorionic Villi​15-mL tube containing 15 mL of transport media​20 mg​5 mg
Collection Processing Instructions

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

Specimen preferred to arrive within 96 hours of collection.

Blood: 

1. Invert several times to mix blood.

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

 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.

 Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.

 

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole Blood ​​Ambient (preferred)​4 days
​Refrigerated​not specified
​Amniotic Fluid ​​Refrigerated (preferred)​not specified
​Ambient​not specified
​Chorionic Villi​Refrigerated​not specified
Rejection Criteria

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Interference

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.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Batched, performed most weekdays​6 to 7 days​Multiplex Polymerase Chain Reaction (PCR)/Mass Array
Reference Lab
Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​An interpretive report will be provided.
Interpretation

​An interpretive report will be provided. 

Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81220
​88233​Fibroblast Culture​if appropriate
​88240​Fibroblast Culture​if appropriate
​88235​Amniotic Fluid Culture​if appropriate
​88240​Amniotic Fluid Culture - Cryopreservation​if appropriate
​81265​Maternal Cell Contamination​if appropriate
​81266​Maternal Cell Contamination​if appropriate
Synonyms/Keywords

​CF

CFPB

CFTR (Cystic Fibrosis Transmembrane Conductance)

Congenital Bilateral Absence of the Vas deferens

Cystic Fibrosis Transmembrane Conductance Regulator

Cystic Fibrosis, Prenatal Diagnosis

Pancreatitis

Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Ordering Applications
Ordering ApplicationDescription
​COM​Cystic Fibrosis Mutation Analysis, 106 (CFP)
​​Cerner​​Cystic Fibrosis Mutation Analysis, 106-Mutation Panel, Varies (CFP)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Whole Blood​EDTA Lavender Top Tube (LTT)​ACD Yellow Top Tube or any anticoagulant​2.5 mL​0.5 mL
​Amniotic Fluid​Amniotic Fluid container​20 mL​10 mL
​Chorionic Villi​15-mL tube containing 15 mL of transport media​20 mg​5 mg
Collection Processing

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

Specimen preferred to arrive within 96 hours of collection.

Blood: 

1. Invert several times to mix blood.

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

 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.

 Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.

 

Specimen Stability Information
Specimen TypeTemperatureTime
​Whole Blood ​​Ambient (preferred)​4 days
​Refrigerated​not specified
​Amniotic Fluid ​​Refrigerated (preferred)​not specified
​Ambient​not specified
​Chorionic Villi​Refrigerated​not specified
Rejection Criteria

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Interference

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.

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 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​

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​An interpretive report will be provided.
Interpretation

​An interpretive report will be provided. 

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Batched, performed most weekdays​6 to 7 days​Multiplex Polymerase Chain Reaction (PCR)/Mass Array
Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​81220
​88233​Fibroblast Culture​if appropriate
​88240​Fibroblast Culture​if appropriate
​88235​Amniotic Fluid Culture​if appropriate
​88240​Amniotic Fluid Culture - Cryopreservation​if appropriate
​81265​Maternal Cell Contamination​if appropriate
​81266​Maternal Cell Contamination​if appropriate
For most current information refer to the Marshfield Laboratory online reference manual.