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Test Code CFTR S+DD CFTR Gene, Full Gene Analysis

Reporting Name

CFTR Gene, Full Gene Analysis
Seattle Children's Hospital Note:

Clinical System Name: CFTR Gene Sequencing and Del/Dup

Useful For

Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) and a negative targeted mutation analysis for the common mutations


Identification of mutations in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis)


Identification of mutations in individuals where detection rates by targeted mutation analysis are low or unknown for their ethnic background


Identification of patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy


This is not the preferred genetic test for carrier screening or initial diagnosis. For these situations, order CFB / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Shipping Instructions

Specimen preferred to arrive within 96 hours of draw.

Specimen Required

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.

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD)        

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

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

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)

Day(s) and Time(s) Performed

Performed weekly; Varies

Seattle Children's Hospital Note:

TAT: 16 - 22 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Method Name

Polymerase Chain Reaction (PCR)/DNA Sequencing/Dosage Analysis (Multiplex Ligation-Dependent Probe Amplification [MLPA])

Method Description

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the CFTR gene as well as the c.1811+1.6kbA>G and c.3849+10kbC>T mutations. Additionally, gene dosage analysis (multiplex ligation-dependent probe amplification) is used to test for the presence of large deletions and duplications in this gene.(Unpublished Mayo method)

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

81223-CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence


LOINC Code Information

Test ID Test Order Name Order LOINC Value
CFTRZ CFTR Gene, Full Gene Analysis In Process


Result ID Test Result Name Result LOINC Value
53784 Result Summary 50397-9
53785 Result In Process
53786 Interpretation 69047-9
53787 Additional Information 48767-8
53788 Specimen 31208-2
53789 Source 31208-2
53790 Released By 18771-6

Reject Due To

No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.

Testing Algorithm

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.


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

2. 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.