ARUP's Laboratory Test Directory

Cystic Fibrosis (CFTR) 32 Mutations : 2001933
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Patient History For Cystic Fibrosis (CF) Testing
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Additional Technical Information


Mnemonic: CF PAN

Ordering Recommendation: Diagnostic testing for cystic fibrosis. Carrier screening for cystic fibrosis.
Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation/Fragment Analysis
Performed: Sun-Sat
Reported: 3-7 days
Specimen Required: 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.

Remarks: Patient History Form is available on the ARUP Web site or by contacting Client Services at (800) 522-2787.

Unacceptable Conditions: Frozen

Stability (collection to initiation of testing): 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: Rare diagnostic errors can occur due to primer or probe site mutations. 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