Laboratory Test Information Guide

Details for Cystic Fibrosis

Test Name: Cystic Fibrosis
Alternate Name(s): CF
Laboratory: Molecular Diagnostics
Specimen Type: Whole blood-2 x 4 mL Lavender EDTA top Vacutainer tube
Collection Information: Blood samples must be maintained at room temperature.
Test Schedule: As Required
Monday - Friday
0800 - 1600 h
Turnaround time from when specimen
is received in testing laboratory:
6 weeks
10 days
Reference Range: See report
Effective Date: 2009-03-31
Revised Date: 2021-04-30
Critical Value: N/A
Interpretive Comments: CFTR related disorders include cystic fibrosis and absence of the vas deferens. Mutations in the CFTR gene can result in complex multisystem disease with morbidity resulting from pulmonary disease precipitated by lower airway inflammation and chronic endobronchial infection. The F508del mutation is a 3-base pair deletion in exon #10 of the CF gene that is associated with 70% of CF chromosomes in the Caucasian population. The American College of Medical Genetics (ACMG) has recommended (PMID:17394390) that individuals be tested for a further 23 different mutations in the Cystic Fibrosis gene.
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory.
Method of Analysis: A total of 72 recurrent CFTR mutations, including those recommended by the ACMG, along with the polymorphic poly-pyrimidine intron8/exon9 splice-acceptor site (see attached on page 2 of this report) are screened using Agena iPLEX Pro CFTR Panel v1.0 kit followed by SpectroCHIP® Array detection using the MassARRAY System (Agena).
Critical Information Required: Pedigree required.
Storage & Shipment: Must be received in testing laboratory within 5 days of collection, shipped at room temperature by courier/overnight delivery.
System Codes: 
Referred To:  

Questions? Comments? Contact Laura Gopaul