ARUP's Laboratory Test Directory

Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing : 0051150
[ image for: Patient History For Cystic Fibrosis]
Patient History For Cystic Fibrosis
  


Mnemonic: CF REFLEX

Methodology: Polymerase Chain Reaction/Oligonucleotide Ligation/Scanning/Sequencing
Performed: Refer to individual components 0056040 and 0051110
Reported: Refer to individual components 0056040 and 0051110
Specimen Required: Collect:  One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).

Transport:  3 mL whole blood at 2-8°C. (Min: 2 mL)

Pediatric Collection/Transport:  2 mL whole blood at 2-8°C.

Remarks:  Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability:  Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
 
Available Separately Components Reference Interval
Yes (0056040) Cystic Fibrosis, Mutation Panel By report
Yes (0051110) Cystic Fibrosis, Full Gene Analysis By report

Interpretive Data: Background Information:
Classic CF Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
Atypical CF Characteristics: Mono-symptomatic disease such as chronic pancreatitis, bilateral absence of the vas deferens, nasal polyps, or bronchiectasis.
Incidence: 1:3000 Caucasians or Ashkenazi Jewish, 1:8000 Hispanics, 1:15,000 African Americans, 1:32,000 Asians.
Inheritance: Autosomal recessive.
Cause of Classic CF: Two cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
Cause of Atypical CF: Often one severe CFTR mutation and one mild CFTR mutation or variant.
Panel Mutations Tested: G85E, R117H, I148T, R334W, R347P, R347H, 394delTT, A455E, I507del, F508del, V520F, G542X, S549N, S549R, G551D, R553X, R560T, 621+1G>T, 711+1G>T, 1078delT, R1162X, W1282X, N1303K, 1717-1G>A,1898+1G>A, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+10kbC>T, 3876delA, 3905insT.
Clinical Sensitivity: 98%
Methodology for Panel: PCR, oligonucleotide ligation assay (OLA), and fluorescent hybridization probes.
Methodology for Sequencing: Bidirectional sequencing of the CFTR coding region and intron/exon boundaries.
Analytical Sensitivity and Specificity: 99%
Limitations: CFTR promoter mutations and large gene deletions/duplications will not be detected.





Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
Note: The CF Mutation Panel tests for the 32 most common CF mutations. If two mutations are not found, then the sample is reflexed to CFTR Full Gene Sequencing (0051110). IVS-8 testing is performed as part of Cystic Fibrosis, Full Gene Sequencing (0051110).
 
CPT Code(s): 83890 Isolation; 83900 Amplification; 83901 x31 Multiplex amplification; 83914 x33 Mutation identification; 83909 Capillary electrophoresis; 83912 Interpretation and report.  If reflexed, add 83891 Isolation; 83898 x30 Amplification; 83909 Capillary electrophoresis; 83904 x30 Sequencing; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
 
 

 

 

 
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