Cystic Fibrosis (CFTR) 32 Mutations
2001933
Ordering Recommendation
Diagnostic testing for cystic fibrosis. Carrier screening for cystic fibrosis.
Mnemonic
CF PAN
Methodology
Polymerase Chain Reaction/Oligonucleotide Ligation/Fragment Analysis
Performed
Sun-Sat
Reported
3-7 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
Frozen  
Remarks
Patient History Form is available on the ARUP Web site or by contacting Client Services at (800) 522-2787.  
Stability
Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background information for Cystic Fibrosis (CFTR) 32 Mutations:
Characteristics:
Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis in non-classic cystic fibrosis (CF).
Incidence:
1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African Americans, 1 in 32,000 Asians.
Inheritance:
Autosomal recessive.
Penetrance:
High for severe mutations, variable for mild mutations.
Cause:
Two CFTR mutations on opposite chromosomes.
Mutations Tested:
G85E (c.254G>A), R117H (c.350G>A), R334W (c.1000C>T), R347P (c.1040G>C), R347H (c.1040G>A), 394delTT (c.262_263delTT), A455E (c.1364C>A), I507del (c.1519_1521de;ATC), F508del (c.1521_1523de;CTT), V520F (c.1558G>T), G542X (c.1624G>T), S549N (c.1646G>A), S549R (c.1645A>C or c.1647T>G), G551D (c.1652G>A), R553X (c.1657C>T), R560T (c.1679G>C), 621+1G>T (c.489+1G>T), 711+1G>T (c.579+1G>T), 1078delT (c.948delT), R1162X (c.3484C>T), W1282X (c.3846G>A), N1303K (c.3909C>G), 1717-1G>A (c.1585-1G>A), 1898+1G>A (c.1766+1G>A), 2183AA>G (c.2051_2052delAAinsG), 2184delA (c.2052delA), 2789+5G>A (c.2657+5G>A), 3120+1G>A (c.2988+1G>A), 3659delC (c.3528delC), 3849+10kbC>T (c.3717+12191C>T), 3876delA (c.3744delA), 3905insT (c.3773_3774insT). For specimens positive for R117H, the IVS-8/poly T (c.1210-12T[5_9] is analyzed. The mutations tested are listed above according to the legacy nomenclature; the standard nomenclature is listed in parentheses. Panel mutations are reported according to the legacy nomenclature.
Clinical Sensitivity:
Ashkenazi Jewish 94 percent; Caucasian 89 percent; Hispanic 73 percent; African American 65 percent; Asian American 55 percent.
Methodology:
PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis.
Analytical Sensitivity & Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Only the 32 CFTR mutations listed above will be interrogated.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
This test includes the 23 CF mutations recommended by the American College of Medical Genetics for population carrier screening.
CPT Code(s)
81220
Components
Component Test Code*Component Chart Name
0050603Cystic Fibrosis (CFTR) R117H and 5T
0051151Cystic Fibrosis Symptom
0056003Cystic Fibrosis (CFTR) 5T Mutation
0056030Cystic Fibrosis (CFTR) Panel, Allele 1
0056032Cystic Fibrosis (CFTR) Panel, Allele 2
0056037Cystic Fibrosis Ethnicity
0056039Cystic Fibrosis Family History
2002129Cystic Fibrosis (CFTR) Panel Specimen
2002130Cystic Fibrosis (CFTR) Panel Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Cross References
  • CF DNA Analysis
  • CF Gene Mutation Panel
  • CF Molecular Genetic Testing
  • CF population carrier screening test
  • Classic CF
  • Cystic Fibrosis Genotyping