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Cystic Fibrosis Test Selection Guide

Cystic Fibrosis Test Selection Guide

Test Guide

Cystic Fibrosis Test Selection Guide

This Guide is intended to help a physician choose the appropriate cystic fibrosis (CF) test for his/her patient. It includes algorithms that assist in test selection for CF carrier screening (Figure 1) and CF diagnosis (Figure 2). It also includes a list of CF tests offered by Quest Diagnostics (Table). This guide is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.

Figure 1. Cystic Fibrosis Carrier Screening: Selecting the Appropriate Laboratory Test

Figure 2. Cystic Fibrosis Diagnosis: Selecting the Appropriate Laboratory Test

Table. Cystic Fibrosis Tests Offered by Quest Diagnostics
Test Code Test Name Clinical Application CPT Codesa
92068 CFvantage® Cystic Fibrosis Expanded Screenb Expanded screen for carrier status and assessment of CF risk; provides increased detection rate compared to the 32-mutation screen 81220
10458 Cystic Fibrosis Screenb General screen for carrier status and assessment of CF risk; includes 32 CF-causing mutations 81220
10226(X) Cystic Fibrosis DNA Analysis, Fetusb,c Diagnose CF in a fetus; includes 32 CF-causing mutations 88235;
81220
10917(X) Cystic Fibrosis Complete Rare Mutation Analysis, Entire Gene Sequenceb,d
(CF Complete®)

CF-affected individual, or an individual with atypical CF: identify rare mutation(s) when only 1 or no mutations were detected in a screening assay

Individual with a family history of CF: identify a rare familial mutation when no mutations were detected in a screening assay

81223
16080(X) Cystic Fibrosis Gene Deletion or Duplicationb,e

Diagnose CF in symptomatic individuals when only 1 or no mutations were detected in a screening or sequencing assay

Determine carrier status or diagnose CF when there is a known familial CF-causing gene deletion or duplication

81222
17726(X) Cystic Fibrosis Mutation Screen with Reflex to CF Complete (Clinics Only)b,f See 10458 and 10917(X). Diagnose CF without submitting multiple specimens 81220
10913(X) Cystic Fibrosis Rare Mutation Analysis, One Exonb,c,d Screen for carrier status or diagnose CF when there is a known familial mutation that is not detectable in a screening assay 81221
10915(X) Cystic Fibrosis Rare Mutation Analysis, Two Exonb,c,d Screen for carrier status or diagnose CF when there are 2 known familial mutations that are not detectable in a screening assay 81221
15053(X) CFTR Intron 8 Poly-T Analysisb Differential diagnosis of CBAVD, idiopathic pancreatitis, bronchiectasis, etc. (used in conjunction with Cystic Fibrosis Screen or CFvantage Cystic Fibrosis Expanded Screen) 81224
15335(X) Cystic Fibrosis D1152H Mutation Analysisb,g Identify disease-causing mutation in individuals with CBAVD or mild CF symptoms; order only in select, rare cases 81221

CF, cystic fibrosis; CBAVD, congenital bilateral absence of the vas deferens.

a

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

b

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

c

For prenatal diagnosis with a fetal specimen, contact your local Quest Diagnostics genetic counselor or call Quest Genomics Client Services at 866.GENE.INFO (866-436-3463) before submission.

d

This test is performed pursuant to a license agreement with Roche Molecular Systems, Inc. and the Hospital for Sick Children.

e

This test is performed pursuant to a license agreement with Roche Molecular Systems, Inc.

f

Reflex tests are performed at additional charge and are associated with an additional CPT code(s).

g

This test is performed pursuant to a license agreement with Orchid Biosciences Inc.

Reference

  1. Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008;7:179-196.
     

Content reviewed 08/2016

 

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* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.