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Cystic Fibrosis MiSeqDx 139-Variant Assay by Next Generation Sequencing

Test Code

M CF NGS 139


Cystic Fibrosis Diagnostic


Next Generation Sequencing

Turnaround Time

7-10 days

Specimen Requirements

5.0mL (min 3.0mL) 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


The illumina MiSeqDx CF 139-Variant assay by NGS detects 135 clinically relevant cystic fibrosis disease-causing mutations and 4 variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.  The panel includes mutations and variants currently recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG). CF 139 by NGS is designed to capture the clinically validated CF causing mutations in the CFTR2 database, this pan ethnic expanded panel can be useful for increasing clinical sensitivity in more ethnically diverse populations or in clinical situations where CFTR molecular screening fails to identify a second pathogenic mutation in patients with a clinical diagnosis of CF. 

Recommended for diagnostic testing for individuals with suspected or known CF
Population-based CF carrier screening for:
•    Individuals with a family history of CF
•    Reproductive partners of individuals with CF
•    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. (2014). MiSeqDx® Cystic Fibrosis 139-Variant Assay Package Insert 15038347 A.

MiSeqDX and Illumina are registered trademarks of Illumina, Inc.