Cystic Fibrosis Mutation Analysis, 106-Mutation Panel
Method Description Describes how the test is performed and provides a method-specific reference
A laboratory-developed multiplex PCR-based assay utilizing the Sequenom Mass Array platform is used to detect a total of 106 mutations. The 23 mutations specified in the American College of Medical Genetics (ACMG) standards for population-based carrier screening (deltaF508, deltaI507, G542X, G85E, R117H, W1282X, 621+1 G->T, 711+1 G->T, N1303K (C->A and C->G), R334W, R347P, A455E, 1717-1 G->A, R553X, R560T, G551D, 1898+1 G->A, 2184delA, 2789+5 G->A, 3120+1 G->A, R1162X, 3659delC, and 3849+10kb C->T), as well as the deletion exons 2-3, 296+2 T->A, E60X, R75X, 394delTT, 405+1 G->A, 406-1 G->A, E92X, 444delA, 457TAT->G, R117C, Y122X, 574delA, 663delT, G178R, 711+5 G->A, 712-1 G->T, H199Y, P205S, L206W, 852del22, 935delA, 936delTA, deltaF311, 1078delT, G330X, T338I, R347H, R352Q, Q359K, T360K, 1288insTA, S466X (C->A), S466X (C->G), G480C, Q493X, 1677delTA, C524X, S549N, S549R, Q552X, A559T, 1811+1.6kb A->G, 1812-1 G->A, 1898+1 G->T, 1898+1 G->C, 1898+5G->T, P574H, 1949del84, 2043delG, 2055del9->A, 2105del13ins5, 2108delA, 2143delT, 2183AA->G, 2184insA, R709X, K710X, 2307insA, R764X, Q890X, 2869insG, 3171delC, 3199del6, R1066C, W1089X, Y1092X (C->G), Y1092X (C->A), M1101K, M1101R, D1152H, R1158X, 3667del4, S1196X, W1204X, 3791delC, Q1238X, 3876delA, S1251N, S1255X, 3905insT and 4016insT mutations are detected. Poly T determination and confirmatory testing of homozygous results are performed as reflex tests when appropriate. (Farkas DH, Miltgen NE, Stoerker J, et al: The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model. J Molec Diagn 2010;12:611-619)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 2 p.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Whole Blood: 2 weeks (if available) Extracted DNA: 3 months
Performing Laboratory Location The location of the laboratory that performs the test