Cystic Fibrosis Test Menu
Why Choose Quest Diagnostics for Your Genetics Testing?
| • | Innovation – Quest Diagnostics is the first national clinical laboratory to offer testing for the entire Cystic Fibrosis (CF) gene sequence, CF Complete.™ |
| • | Comprehensive Menu – Full range of CF testing including both screening and diagnostic tests (pre-and postnatal). |
| • | Expertise – Consultations with ABMG certified Scientific and Medical Directors, Genetic Counselors, and Academic Associates. |
Test Name |
Clinical Application |
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Cystic Fibrosis Carrier Screen |
General screen for carrier status and assessment of CF risk. |
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CFTR Intron 8 Poly-T Analysis |
Differential diagnosis of CBAVD, idiopathic pancreatitis, bronchiectasis, etc. (used in conjunction with the CF Carrier Screen). |
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Cystic Fibrosis 3199del6 Mutation |
Clarify CF carrier status and CF risk in the presence of the I148T mutation |
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Cystic Fibrosis DNA Analysis, Fetus |
Diagnose CF in a fetus. |
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Cystic Fibrosis Rare Mutation Analysis, One Exon* |
Screen for carrier status or diagnose CF when there is a known familial mutation that is not detectable in the general screening assay. |
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Cystic Fibrosis Rare Mutation Analysis, Two Exons* |
Screen for carrier status or diagnose CF when there are 2 known rare familial mutations that are not detectable in the general screening assay. |
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Cystic Fibrosis Complete (CF Complete™)* Rare Mutation Analysis, Entire Gene Sequence* |
CF-affected individual, or an individual with atypical CF: Identify rare mutation(s) when only 1 or no mutations were detected in the general screening assay. |
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Individual with a family history of CF: identify a rare familial mutation when no mutations were detected in the general screening assay. |
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*Contact your local Quest Diagnostics genetic counselor counselor or call toll free |
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Quest Diagnostics Genetics Center
Physicians, if you need assistance with CF, maternal serum screening results, molecular testing or any other genetic test, the Quest Diagnostics Genetics Center is ready to assist you. A dedicated genetics customer service professional will answer your question or, if appropriate, connect you with one of our:
| • | Seventeen Directors certified by the American Board of Medical Genetics, |
| • | Eight genetic counselors certified by the American Board of Genetic Counseling, or |
| • | Two academic associates who are thought leaders from academic medical centers. |
Contact the Genetics Center toll-free, at
Online Resources for Healthcare Professionals
| • | Access our online Test Menu to obtain test ordering codes and specimen requirements. |
| • | Visit our Interpretive Guide for information relating to genetic test selection, utilization, and interpretation. |
| • | Simplify test ordering and results reporting with our connectivity solutions. |
| • | Learn more about our genetic testing capabilities. |
Online Test Information for Your Patients
Your patients can learn about health conditions and laboratory tests in our online Patient Health Library. The library is founded on evidence-based information, and includes topics such as:
Contact a Quest Diagnostics Sales Representative,
learn more about our testing services, and become a client
| • | Contact a physician sales representative |
| • | Contact a hospital sales representative or learn about our complete hospital offerings |
