Table C-6KQ1c: Diagnostic sensitivity and specificity of TPMT determinations – summary data

StudyGenotypesNumber of participantsGenotypesNumber of participantsNormal and hyperactivityNormal, hyperactivity or intermediate activity
Normal or hyperactivityIntermediate or low activityNormal, hyperactivity or intermediate activityLow activitySensitivitySpecificitySensitivitySpecificity
Ansari, 200828Heterozygous or homozygous for variant(s)117Homozygous for variant(s)0073.9 (52.8, 87.8)99.4 (95.9, 99.9)0/099.7 (96, 100)
Non-carriers1686Non-carriers or heterozygous for variant(s)1920
Ansari, 200229Heterozygous or homozygous for variant(s)010Homozygous for variant(s)0095.5 (55.2, 99.7)98.4 (78.9, 99.9)0/098.8 (83.3, 99.9)
Non-carriers300Non-carriers or heterozygous for variants400
Gardiner, 200830Heterozygous or homozygous for variant(s)25Homozygous for variant(s)0055.6 (25.1, 82.3)96.6 (87.4, 99.2)0/099.3 (89.5, 100)
Non-carriers574Non-carriers or heterozygous for variants680
Haglund, 200431Heterozygous or homozygous for variant(s)021Homozygous for variant(s)0697.7 (72.3, 99.9)95 (52.5, 99.7)75.0 (37.7, 93.7)97.8 (73.2, 99.9)
Non-carriers90Non-carriers or heterozygous for variant(s)222
Hindorf, 200632Heterozygous or homozygous for variant(s)111Homozygous for variant(s)0691.7 (58.7, 98.8)97.5 (84.3, 99.6)92.9 (42.3, 99.6)98.9 (85.1, 99.9)
Non-carriers391Non-carriers or heterozygous for variant(s)460
Hindorf, 200433Heterozygous or homozygous for variant(s)05Homozygous for variant(s)0191.7 (37.8, 99.5)99 (86.2, 99.9)100%99.1 (87.1, 99.9)
Non-carriers500Non-carriers or heterozygous for variant(s)540
Langley, 200234Heterozygous or homozygous for variant(s)46Homozygous for variant(s)0066.7 (33.3, 88.9)90.9 (78.2, 96.5)0%99.1 (86.6, 99.9)
Non-carriers403Non-carriers or heterozygous for variant(s)521
Lindqvist, 200635Heterozygous or homozygous for variant(s)17Homozygous for variant(s)0163.6 (33.9, 85.7)98 (86.9, 99.7)1/199.2 (88, 99.9)
Non-carriers484Non-carriers or heterozygous for variant(s)590
Marinaki, 200336Heterozygous or homozygous for variant(s)05Homozygous for variant(s)0091.7 (37.8, 99.5)99.4 (90.9, 100)0/099.4 (91.4, 100)
Non-carriers800Non-carriers or heterozygous for variant(s)850
Okada, 200537Heterozygous or homozygous for variant(s)13Homozygous for variant(s)0023.1 (7.6, 52.2)97.6 (84.9, 99.7)0/099.1 (87.3, 99.9)
Non-carriers4110Non-carriers or heterozygous for variant(s)550
Schwab, 200238Heterozygous or homozygous for variant(s)35Homozygous for variant(s)0191.7 (37.8, 99.5)96.6 (90, 98.9)1/199.5 (92, 100)
Non-carriers850Non-carriers or heterozygous for variant(s)920
Snow, 199339Heterozygous or homozygous for variant(s)05Homozygous for variant(s)0091.7 (37.8, 99.5)97.7 (72.3, 99.9)0/098.1 (76.4, 99.9)
Non-carriers210Non-carriers or heterozygous for variant(s)260
Stassen, 200940Heterozygous or homozygous for variant(s)07Homozygous for variant(s)0093.8 (46.1, 99.6)99.5 (92.7, 100)0/099.5 (93.1, 100)
Non-carriers1010Non-carriers or heterozygous for variant(s)1080
Stocco, 200541Heterozygous or homozygous for variant(s)03Homozygous for variant(s)0087.5 (26.6, 99.3)98.1 (75.6, 99.9)0/098.3 (77.7, 99.9)
Non-carriers250Non-carriers or heterozygous for variant(s)280
Stocco, 200442Heterozygous or homozygous for variant(s)04Homozygous for variant(s)0090 (32.6, 99.4)97.9 (74.1, 99.9)0/098.2 (77, 99.9)
Non-carriers230Non-carriers or heterozygous for variant(s)270
von Ahsen, 200543Heterozygous or homozygous for variant(s)05Homozygous for variant(s)0023.8 (10.3, 46)99 (86.2, 99.9)0/099.3 (89.9, 100)
Non-carriers5016Non-carriers or heterozygous for variant(s)710
Winter, 200744Heterozygous or homozygous for variant(s)011Homozygous for variant(s)0064.7 (40.4, 83.2)99.6 (93.4, 100)0/099.6 (94.2, 100)
Non-carriers1136Non-carriers or heterozygous for variant(s)1291
Newman, 201045Heterozygous or homozygous for variant(s)035Homozygous for variant(s)0194.6 (80.8, 98.6)99.8 (97.0, 100)1/199.8 (97.6, 100)
Non-carriers2962Non-carriers or heterozygous for variant(s)3320
Hindorf, 201046Heterozygous or homozygous for variant(s)220Homozygous for variant(s)0087.0 (66.5, 95.7)99.0 (96.2, 99.8)0/099.8 (96.6, 100)
Non-carriers2043Non-carriers or heterozygous for variant(s)2290

Abbreviations: TPMT = thiopurine methyltransferase.

From: Appendix C, Evidence Tables

Cover of Assessment of Thiopurine Methyltransferase Activity in Patients Prescribed Azathioprine or Other Thiopurine-Based Drugs
Assessment of Thiopurine Methyltransferase Activity in Patients Prescribed Azathioprine or Other Thiopurine-Based Drugs.
Evidence Reports/Technology Assessments, No. 196.
Booth RA, Ansari MT, Tricco AC, et al.

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