책소개
우리 몸에 질환이 발생하면 그 병의 진행과 치유상태에 따라 여러 가지 변화가 일어나는데, 그에
따른 생체 내 제반성분을 측정하여 관찰함으로써 질환의 병태를 연구하는 학문이 진단검사의학이며
이 학문의 발전이 의료발전의 큰 원동력이 되었다.
예전에는 모든 의사가 진료과목에 상관없이 진료를 할 때 병력청취와 이학적 검사 후에 의심되는
질환을 확인하기 위한 목적으로 진단검사를 실시해 왔으나 지난 수십 년에 걸친 진단검사의학의 발
전으로, 이제는 일차적인 진료행위에 겸하여 기본적인 진단검사 결과가 있어야만 질환을 추정할 수
있을 정도로 그 활용이 확대되었다. 또한, 확진력이 뛰어난 검사들이 많이 개발되어 활용됨으로써
질병 진단의 정확성이 나날이 높아지고 있다. 그러므로 현재 활용 가능한 검사항목들에 대해, 검사
의의 및 검체채취 방법, 결과 활용 등을 숙지하여 효과적으로 진료에 이용해야 진료수준을 높일 수
있으나, 진료에 활용할 수 있는 검사항목이 특수검사까지 합쳐 2,000여 종이 넘고, 급격하게 발전하
는 검사기법과 새로운 진단마커들의 개발로 인해 의사들은 물론 진단검사의학 전문의조차 그 정보
에 능통하기가 쉽지 않아 불필요한 검사가 남용되거나 꼭 필요한 검사가 누락되어 질병 진단에 차질
이 오기도 한다.
임상의들이 진단검사에 대한 정보를 진료에 활용할 때 도움이 되었으면 하는 마음에서 Lab. Test
Directory라는 검사정보 안내서를 1998년과 2013년에 출간한 이래, 그동안 검사항목도 늘어나고
검사기법도 다양화되었기에 새롭게 수정 보완하여 출간하게 되었다.
이 책에는 현재 수탁기관에서 수행하고 있는 검사 대부분이 포함된 최신 검사에 대한 정보가 담
겨 있으며, 각각의 검사항목을 검사 성격으로 분류한 후 찾기 쉽도록 검사명칭의 영어자모순의 찾아
보기를 뒤에 첨부하였다.
각 진단검사항목마다 기준치, 측정법, 검체량, 검사목적, 검체취급(채취, 보존)에 이어 측정치에
따라 추정할 수 있는 질환을 [예상질환], [잠재질환]으로 정리하였으며, 이에 대한 [조치]를 간략하게
설명하였다. 그리고 별도의 소제목으로 이상치를 보이게 되는 기전과 임상적 의의를 기술하고, 검사
치를 해석할 때 주의해야 할 유의사항, 치료약물로 인한 검사치의 영향에 대하여 기술하였다. 또한,
질환과 검사 항에서는 질환을 간단하게 소개하고, 검사소견, 경과관찰을 위한 검사항목과 측정빈도
및 진단 ․ 경과관찰상의 요점을 정리하였다.
책 발간에 도움을 준 Sure Quest Lab 직원들과 고려의학 최병진 사장님께 감사하며, 이 책이 임
상의들의 진료에 활용되어 조금이나마 도움이 되길 진심으로 바란다.

목차
목 차
총 론
정상범위 ······················································································································· 3
정상범위의 생리적 변동 ································································································· 7
진단검사의 변동 요인 ··································································································· 14
입원 시의 검사 ············································································································ 20
외래진료 시의 검사 ······································································································ 21
진단검사의학의 Group 검사 ························································································· 24
수혈검사 ····················································································································· 36
진단검사
I. 질소 화합물 ······································································································ 39
Amino acid ················································································································ 39
Analysis of amino acid (tyrosine, phenylalanine) ······················································· 39
Branched chain amino acid/tyrosine molar ratio [BTR] ··············································· 41
Fischer ratio ··············································································································· 42
γ-Aminobutyric acid [GABA] ······················································································ 43
Ammonia [NH3] ·········································································································· 43
Blood urea nitrogen [BUN] ························································································· 44
Urinary urea nitrogen [UUN] ······················································································ 45
BUN/Creatinine ratio ································································································· 46
Creatine, serum ·········································································································· 46
Urinary creatine ········································································································· 47
Creatinine, serum ······································································································· 48
Urinary creatinine ······································································································ 49
Creatinine clearance [Ccr] ···························································································· 50
Inulin clearance [Cin] ·································································································· 52
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Paraaminohippurate clearance [CPAH] ·········································································· 53
Sodium thiosulfate clearance [Cthio] ············································································· 53
Cystatin C [Cys-C] ······································································································· 54
Guanidino compound derivatives ·············································································· 56
Hydroxyproline [Hyp] ································································································ 56
3-Methylhistidine [3-MeHis] ························································································ 57
Uric acid [UA] ············································································································· 58
Urinary uric acid [UUA] ······························································································ 59
Urinary screening test for congenital metabolic disorder ············································ 61
II. 당질검사 ········································································································· 62
Fructose ····················································································································· 62
Galactose [Gal] ··········································································································· 62
Glucose ····················································································································· 63
Glucose tolerance test [GTT] ······················································································ 64
Glycosaminoglycan (acid mucopolysaccharides; AMPS) ············································· 66
Hyaluronic acid [HA] ·································································································· 67
Sialic acid ··················································································································· 68
Urinary myo-inositol [UMI] ························································································· 68
Xylose [Xyl] ················································································································ 69
D-Xylose absorption test ···························································································· 70
III. 지질.유기산 검사 ···························································································· 71
Apolipoprotein fraction ······························································································ 71
Bile acid, total ············································································································ 72
Urinary total sulfated bile acids ·················································································· 73
Cholesterol ester ········································································································ 74
Cholesterol, total ········································································································ 74
Cholesterol ester transfer protein [CETP] ···································································· 76
Free fatty acid [FFA] ··································································································· 76
Glycocholic acid ········································································································ 77
HDL-Cholesterol [high density lipoprotein cholesterol] ··············································· 78
LDL-Cholesterol [low density lipoprotein cholesterol] ················································· 78
Lipoprotein lipase [LPL] ······························································································ 80
Lecithin-cholesterol acyltransferase [LCAT] ································································· 80
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Lipid peroxide ··········································································································· 81
Lipoprotein fraction ··································································································· 82
Lipoprotein(a) [Lp(a)] ································································································· 83
Malondialdehyde-modified low density lipoprotein [MDA-LDL] ·································· 83
Phospholipids ············································································································ 84
Remnant like particle cholesterol [RLP-C] ··································································· 85
Triglyceride [TG] ········································································································ 85
Ketone bodies ············································································································ 87
Ketone body fractionation ························································································· 88
Acetone ····················································································································· 89
Lactic acid ·················································································································· 90
Pyruvic acid ··············································································································· 91
Urinary organic acid analysis for congenital metabolic disorder ································· 91
IV. 단백 검사 ······································································································· 94
α1-Acid glycoprotein [α1-AG; AAG] ··········································································· 94
α1-Antichymotrypsin [ACT] ························································································· 94
α1-Antitrypsin [α1-AT] ································································································· 95
Acute phase reactants score [APR score] ····································································· 96
Albumin ····················································································································· 96
Albumin/Globulin ratio [A/G ratio] ············································································· 97
Ceruloplasmin ··········································································································· 97
Cryoglobulin ·············································································································· 98
Serum amyloid A protein [SAA] ·················································································· 99
Bence Jones protein [BJP] ·························································································· 99
C-reactive protein [CRP] ···························································································· 100
Type IV collagen ······································································································ 102
Type IV collagen 7S ································································································· 102
Urinary type IV collagen ·························································································· 103
Ferritin ····················································································································· 103
Fructosamine ··········································································································· 104
Glycoalbumin ·········································································································· 105
Haptoglobin [Hp] ····································································································· 106
α2-Heat stable glycoprotein [α2-HS] ··········································································· 107
Heart type fatty acid-binding protein [H-FABP] ························································· 108
Hemoglobin A1c [HbA1c] (glycated hemoglobin) ······················································· 109
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Hemopexin ·············································································································· 109
Immune complex [IC] ······························································································· 110
Immunoelectrophoresis [IEP] ···················································································· 111
Immunofixation electrophoresis ··············································································· 111
Immunoglobulin A [IgA] ··························································································· 112
Immunoglobulin D [IgD] ·························································································· 113
Immunoglobulin E [IgE] ··························································································· 113
High sensitive immunoglobulin E ············································································· 114
Immunoglobulin G [IgG] ·························································································· 115
Immunoglobulin M [IgM] ·························································································· 116
Immunoglobulin free light chain κ/λ ratio ······························································· 116
α2-Macroglobulin ····································································································· 118
β2-Microglobulin [β2-mG], serum ·············································································· 118
β2-Microglobulin [β2-mG], urine ··············································································· 119
Mucoprotein (acid soluble glycoprotein) ·································································· 120
Mucoprotein fraction ································································································ 121
Myoglobin [Mb] ········································································································ 122
Pancreatitis-associated protein [PAP] ········································································ 122
Pentosidine ·············································································································· 123
Prealbumin [PA] ······································································································· 124
Surfactant protein A [SP-A] ······················································································· 124
Surfactant protein D [SP-D] ······················································································· 125
Total iron binding capacity [TIBC], Unsaturated iron binding capacity [UIBC] ··········· 126
Total protein [TP] ····································································································· 127
Serum protein fractionation ······················································································ 128
Transferrin [Tf] ········································································································· 129
Urinary transferrin ···································································································· 129
Urinary α1-microglobulin [α1-mG] ············································································· 130
Urinary liver type fatty acid binding protein [L-FABP] ··············································· 131
Urinary microalbumin ······························································································ 132
V. 효소 활성 검사 ······························································································ 133
Acid phosphatase [ACP] ··························································································· 133
Tartrate-resistant acid phosphatase 5 b ····································································· 133
Adenosine deaminase [ADA] ···················································································· 134
Adenosine diphosphate [ADP] ·················································································· 135
- ix -
Adenosine triphosphate [ATP] ·················································································· 135
Alanine aminotransferase [ALT] ················································································ 137
Aldolase ··················································································································· 138
Aldolase isoenzyme ································································································· 139
Alkaline phosphatase [ALP] ······················································································ 140
Alkaline phosphatase isoenzymes ············································································ 141
Bone specific alkaline phosphatase [BAP, bs-ALP] ···················································· 143
Amylase ··················································································································· 144
Amylase isoenzyme ·································································································· 144
Pancreas type amylase ····························································································· 145
Urinary amylase ······································································································· 146
Angiotensin converting enzyme [ACE] ······································································ 148
Aspartate aminotransferase [AST] ·············································································· 148
Mitochondria-AST [m-AST] ······················································································· 150
AST/ALT ratio ·········································································································· 150
Catalase ··················································································································· 151
Cholinesterase [ChE] ································································································· 152
Creatine kinase [CK] ································································································· 153
Creatine kinase isoenzyme ······················································································· 154
Creatine kinase-MB [CK-MB] ···················································································· 155
Deoxythymidine kinase ···························································································· 156
2,3-Diphosphoglyceric acid [2,3-DPG] ······································································ 156
Elastase 1 ················································································································· 157
Glucose-6-phosphate dehydrogenase [G-6-PD] ························································ 158
Glutamate dehydrogenase [GLDH] ··········································································· 159
γ-Glutamyl transferase [γ-GT] ················································································ 159
Guanase ··················································································································· 160
Isocitrate dehydrogenase [ICDH] ·············································································· 161
Lactate dehydrogenase [LD] ······················································································ 162
Lactate dehydrogenase isoenzyme ··········································································· 163
LD isoenzyme & LD/AST ratio ·················································································· 163
Leucine aminopeptidase [LAP] ·················································································· 164
Lipase ······················································································································ 165
Monoamine oxidase [MAO] ······················································································ 165
Myosin light chain ···································································································· 166
5.-Nucleotidase ········································································································· 167
- x -
Pancreatic phospholipase A2 [PLA2] ·········································································· 168
Pancreatic secretory trypsin inhibitor [PSTI] ······························································ 168
Pepsinogen I ············································································································ 169
Pepsinogen II ··········································································································· 170
Pepsinogen I/II ratio ································································································ 171
Procollagen III peptide [P-III-P] ················································································ 171
Prolyl hydroxylase [PH] ···························································································· 172
Pyruvate kinase [PK] ································································································· 172
Superoxide dismutase [SOD] ···················································································· 173
Troponin I [TnI] ······································································································· 174
Troponin T [TnT] ······································································································ 175
Trypsin (immunoreactive trypsin; IRT) ····································································· 175
Urinary N-acetyl-β-D-glucosaminidase [NAG] ·························································· 176
VI. 전해질.혈액가스.중금속 ··············································································· 178
Anion gap [AG] ········································································································ 178
Arterial carbon dioxide tension [PaCO2] ···································································· 179
Arterial oxygen tension [PaO2] ·················································································· 181
Arterial pH ··············································································································· 183
Base excess [BE] ······································································································· 184
Plasma bicarbonate concentration [HCO3
－] ······························································ 186
Calcium [Ca] ············································································································· 187
Chloride(chlorine) [Cl] ······························································································ 190
Iodine [I] ·················································································································· 192
Inorganic phosphorus [IP], Phosphorus [P] ······························································· 192
Magnesium [Mg] ······································································································· 194
Plasma osmolality [Posm] ························································································· 195
Urine osmolality [Uosm] ··························································································· 197
Potassium [K] ··········································································································· 198
Sodium [Na] ············································································································· 200
Aluminum [Al] ·········································································································· 202
Arsenic [As] ·············································································································· 203
Copper [Cu] ·············································································································· 204
Gold [Au] ················································································································· 206
Iron [Fe] ··················································································································· 207
- xi -
Lead [Pb] ·················································································································· 208
Lithium [Li] ··············································································································· 209
Manganese [Mn] ······································································································· 210
Mercury [Hg] ············································································································ 211
Zinc [Zn] ·················································································································· 213
VII. 색소관련 물질 ······························································································ 216
Bilirubin, total ·········································································································· 216
Direct bilirubin ········································································································· 216
Indirect bilirubin ······································································································ 217
Direct bilirubin & indirect bilirubin ··········································································· 218
Bromosulfophthalein test [BSP test] ·········································································· 218
Indocyanine green test [ICG test] ·············································································· 218
Phenolsulfonphthalein test [PSP test] ········································································ 219
Porphobilinogen [PBG] ···························································································· 220
Porphyrin bodies and their precursors in urine
Porphyrin body : [UP], [CP], [PP]
Precursor : [ALA], [PBG] ··················································································· 220
VIII. 뇌하수체 호르몬 ·························································································· 223
Adrenocorticotropic hormone [ACTH] ······································································ 223
Arginine loading test ································································································ 225
Bromocriptine test ···································································································· 226
Corticotropin releasing hormone (factor) test [CRH (CRF) test] ·································· 226
Dexamethazone suppression test ············································································· 228
L-Dopa test ·············································································································· 230
β-Endorphin ············································································································ 231
Follicle stimulating hormone [FSH] ·········································································· 232
Glucagon test ··········································································································· 233
Growth hormone [GH] ····························································································· 234
Urinary growth hormone growth hormone-releasing hormone test [GH-RH test] ······ 236
Insulin loading test ··································································································· 237
Insulin-like growth factor-I [IGF-I], (Somatomedin C) ··············································· 239
Insulin-like growth factor-II [IGF-II] ·········································································· 240
Insulin-like growth factor binding protein-3 [IGFBP-3] ············································· 241
- xii -
Luteinizing hormone [LH] ························································································· 242
Luteinizing hormone-releasing hormone test [LH-RH test] ········································· 243
α-Melanocyte stimulating hormone [α-MSH] ··························································· 245
Oxytocin ·················································································································· 245
Prolactin [PRL] ·········································································································· 246
Thyroid stimulating hormone [TSH] (thyrotropin) ····················································· 248
Thyrotropin-releasing hormone test [TRH test] ·························································· 250
Vasopressin [antidiuretic hormone (ADH)] ······························································· 251
IX. 갑상선 호르몬 ······························································································ 254
Anti-thyroid peroxidase antibody (anti-microsomal antibody) ·································· 254
Thyroxine [T4] ·········································································································· 255
Free thyroxine [FT4] ·································································································· 256
Thyroxine-binding globulin [TBG] ············································································ 257
Triiodothyronine [T3] ································································································ 257
Free triiodothyronine [FT3] ······················································································· 258
Reverse triiodothyronine [rT3] ··················································································· 259
Thyroglobulin [Tg] ··································································································· 260
Anti-thyroglobulin antibody [TgAb] ·········································································· 261
Thyroid stimulating antibody [TSAb] ········································································· 262
Thyroid-stimulation blocking antibody [TSBAb] ························································ 263
Thyroid stimulating hormone (thyrotropin) receptor antibody [TRAb]
(TSH-binding inhibiting immunoglobulin; TBII) ·············································· 264
X. 부갑상선 호르몬 ···························································································· 265
Calcitonin ················································································································· 265
Procalcitonin [PCT] ··································································································· 266
β-CrossLaps [β-CTx], β-isomerized C-terminal telopeptide of type I collagen ········ 267
Ellsworth-Howard test (loading test of parathyroid hormone) ·································· 269
High sensitive-parathyroid hormone [PTH-HS] ························································· 270
Intact parathyroid hormone [intact-PTH] ··································································· 271
Nephrogenous cyclic AMP [NcAMP] ········································································· 272
Osteocalcin [bone Gla protein; BGP] ········································································ 273
Undercarboxylated osteocalcin [ucOC] ····································································· 273
Parathyroid hormone-C terminal [PTH-C] ································································· 274
- xiii -
Parathyroid hormone-related protein-intact [PTHrP-intact] ········································ 275
Parathyroid hormone-related protein-C terminal [PTHrP-C] ······································ 276
XI. 부신수질.교감신경계 호르몬 ········································································· 277
5-Hydroxyindole acetic acid [5-HIAA] ······································································· 277
Catecholamine [CA] ·································································································· 278
Homovanilic acid [HVA] ··························································································· 279
Metanephrine, Normetanephrine ············································································· 280
Serotonin [5-hydroxytryptamine; 5-HT] ····································································· 281
Vanillylmandelic acid [VMA] ····················································································· 282
XII. 부신피질 호르몬 ·························································································· 284
Aldosterone ············································································································· 284
Androstenedione ······································································································ 285
Cortisol ···················································································································· 286
Free cortisol ············································································································· 286
Dehydroepiandrosterone [DHEA], ············································································ 287
Dehydroepiandrosterone-sulfate [DHEA-S] ······························································· 287
11-Hydroxycorticosteroids [11-OHCS] ······································································· 288
17-Hydroxycorticosteroids [17-OHCS] ······································································· 289
17-Ketogenic steroids [17-KGS] ················································································· 289
17-Ketogenic steroids [17-KGS] 2 fractions ································································ 290
17-Ketosteroids [17-KS] ····························································································· 291
17-Ketosteroids [17-KS] 2 fractions ············································································ 292
17-Ketosteroids [17-KS] 3 fractions ··········································································· 293
17-Ketosteroids [17-KS] 7 fractions ············································································ 294
XIII. 성선.태반 호르몬 ························································································ 296
Cervical mucosal insulin-like growth factor binding protein-1 [IGFBp-1] ··················· 296
Dihydrotestosterone [DHT] ······················································································· 296
Estrogen ··················································································································· 297
Estradiol [E2] ············································································································· 299
Estriol [E3] ················································································································· 300
Human chorionic gonadotropin [hCG], α-subunit, β-subunit ···································· 301
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Human placental lactogen [hPL] ··············································································· 302
17α-Hydroxyprogesterone [17α-OHP] ······································································ 303
Oncofetal fibronectin in cervical mucus ··································································· 305
Pregnanediol [P2] ······································································································ 305
Pregnanetriol [P3] ······································································································ 306
Progesterone [P4] ······································································································ 307
Testosterone ············································································································ 308
Free testosterone ······································································································ 310
Uterine cervical mucous granulocyte elastase ··························································· 311
XIV. 소화계 호르몬 ···························································································· 312
1,5-Anhydro-D-glucitol [1,5-AG] ··············································································· 312
Connecting peptide immunoreactivity [CPR] ····························································· 313
Gastrin ····················································································································· 314
Gastrin stimulation test ····························································································· 315
Immunoreactive glucagon [IRG] ··············································································· 316
Immunoreactive insulin [IRI] ····················································································· 316
Immunoreactive proinsulin [IRP] ·············································································· 317
Insulin antibody ······································································································· 318
Insulin receptor ········································································································ 319
Neurotensin [NT] ······································································································ 320
Secretin ···················································································································· 321
Secretin test ··················································································