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: 2016-03-21
Critical Value: N/A
Interpretive Comments: The DF508 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 that individuals be tested for a further 23 different mutations in the Cystic Fibrosis gene. A total of 70 recurrent CFTR mutations, including those recommended by the ACMG, along with 6 polymorphisms are screened by a LUMINEX bead-based technique which will allow for the detection of >84% of CF mutations in the local population. Mutations covered in the screen include: (DF508, R1162X, V520F, R1066C, DI507, 3849+10kbC>T, A559T, W1089X, G542X, W1282X, S549N, D1152H, G85E, N1303K, S549R (T>G), R1158X, R117H, E60X, G622D, 3791delC, 621+1G>T, R75X, 1078delT, S1196X, 711+1G>T, 405+3A>C, 1677delTA, 2183AA>G, R334W, 406-1G>A, 1812-1G>A, 2307insA, R347P, 444delA, 1898+5G>T, Y1092X, 3659delC, R117C, 2055del9>A, M1101K, A455E, G178R, 2143delT, S1255X, 1717-1G>A, L206W, K710X, 3876delAR560T, 935delA, Q890X, 3905insT, R553X, DF311, 2869insG, I148T, G551D, , G330X, 3120G>A, D1270N, 1898+1G>A, R352Q, 394delTT, 5/7/9T, 2184delA, S364P, Y122X, F508C, 2789+5G>A, G480C, R347H, I507V, 3120+1G>A, Q493X, 3199del6, I506V)
Further exons not included in this list may be sequenced when clinically indicated.
Special Processing:  
Comments: For more information click on:
Molecular Diagnostic Laboratory.
Method of Analysis: Luminex bead
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