Cystic Fibrosis (CFTR) 32 Mutations, Atypical (INACTIVE as of 07/05/16: Refer to 2013661)
Ordering Recommendation
Polymerase Chain Reaction/Oligonucleotide Ligation/Fragment Analysis
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background information for Cystic Fibrosis, Nonclassic (CFTR)32 Mutations and 5T:
Characteristics of Nonclassic Cystic Fibrosis (CF)
: Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis.
Incidence of Classic CF:
1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African Americans, 1 in 32,000 Asians.
Incidence of Nonclassic CF
: Unknown.
Autosomal recessive.
: High for severe mutations, variable for mild mutations.
Cause of Nonclassic CF:
Typically one severe and one mild/moderate 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.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.
: PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis.
Analytical Sensitivity & Specificity
: 99 percent.
: Diagnostic errors can occur due to rare sequence variations. Only the 32 CFTR mutations listed above, and the IVS-8 poly T site, will be interrogated.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

ISV-8 is automatically analyzed and reported.
CPT Code(s)
81220; 81224
Component Test Code*Component Chart NameLOINC
0055454Cystic Fibrosis Atypical Mutation 142938-1
0055456Cystic Fibrosis Atypical Mutation 242939-9
2002134Cystic Fibrosis Atypical Interpretation50398-7
2011722Cystic Fibrosis (CFTR) 5T Mutation
* 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.
  • nonclassic CF variants