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Cystic Fibrosis MiSeqDx Clinical Sequencing Assay by Next Generation Sequencing

Test Code



Cystic Fibrosis Diagnostic


Next Generation Sequencing

Turnaround Time

7-10 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood EDTA preserved

Specimen Stability
Ambient (18-25°C): 72 hours; Refrigerated (2-8°C): 30 days; Frozen: Unacceptable
Storage & Handling

Ship blood specimen at ambient temperature.
If shipment is delayed, store blood at 2–8°C and ship with a cool / refrigerated pack.
(Do not allow the sample to be in direct contact with the cool pack.)

Causes for Rejection

Insufficient DNA material; Clotted; Severely hemolyzed whole blood specimen; incorrect anticoagulant; frozen sample

Reference Range

See report


This targeted NGS based test re-sequences the protein coding regions and intron/exon boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The test detects single nucleotide variants and small indels within the region sequenced, and additionally reports on two deep intronic mutations and two large deletions. The test is intended to be used as an aid in the diagnosis of individuals with suspected cystic fibrosis (CF) and is most appropriate for use in patients with an atypical or non-classic presentation of CF or when other mutation panels have failed to identify two pathogenic CFTR mutations. This test is not appropriate as a first tier screening test and should be used in conjunction with other available information including clinical symptoms, other diagnostic tests, and a detailed family history.

Most appropriate for patients with atypical CF or when CF causative mutations have not been identified by other mutation panels. Couples who are planning a pregnancy or seeking prenatal care

  1. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, et al. (2004). Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genetics in Medicine 6: 387-391.
  2. Committee on Genetics. (2011). The American College of Obstetricians and Gynecologists Committee Opinion. Update on Carrier Screening for Cystic Fibrosis 486: 1-4.
  3. Illumina. (2015). MiSeqDx® Cystic Fibrosis Clinical Sequencing Assay Package Insert 15038344.



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