For Endocrinologists - Quest Diagnostics

1 endocrinology Test ListFor EndocrinologistsEndocrinology Test ListExtensive CapabilitiesManaging patients with endocrine disorders is complex. Having access to the right test for the right patient is key. With a legacy of expertise in endocrine laboratory Diagnostics , Quest Diagnostics offers an extensive menu of laboratory tests across the spectrum of endocrine disorders. This test list highlights the extensive menu of laboratory diagnostic tests we offer, including highly specialized tests and those performed using highly specific and sensitive mass spectrometry detection. It is conveniently organized by glandular function or common endocrine disorder, making it easy for you to identify the tests you need to care for the patients you and FootnotesNDM, neonatal diabetes mellitus; MODY, maturity-onset diabetes of the young; CH, congenital hyperinsulinism; MSUD, maple syrup urine disease; IHH, idiopathic hypogonadotropic hypogonadism; BBS, Bardet-Biedl syndrome; OI, osteogenesis imperfecta; PKD, polycystic kidney disease; OPPG, osteoporosis-pseudoglioma syndrome; CPHD, combined pituitary hormone deficiency; GHD, growth hormone tests highlighted in green are performed using highly specific and sensitive mass spectrometry detection.

2 Panels that include a test(s) performed using mass spectrometry are highlighted in yellow. For tests highlighted in blue, refer to the Athena Diagnostics website ( ) for test information. These tests are performed by Athena Diagnostics . Multiple test codes are available. Refer to the Quest Diagnostics Nichols Institute Directory of Services or the online Test Center ( ) for test This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. Performance characteristics refer to the analytical performance of the This test was developed and its performance characteristics have been determined by Athena Diagnostics . Performance characteristics refer to the analytical performance of the This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute.

3 It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Performance characteristics refer to the analytical performance of the This test was performed using a kit that has not been cleared or approved by the FDA. The analytical performance characteristics of this test have been determined by Quest Diagnostics Nichols Institute. This test should not be used for diagnosis without confirmation by other medically established tests are performed at an additional following tests that are included in panels may be ordered separately: albumin, alkaline phosphatase, ALT, AST, bilirubin (direct and total), creatinine (serum and urine), electrolyte panel, hemoglobin, hepatic function panel, iron, phosphate, potassium, and total CareQuest Diagnostics Nichols Institute has been pioneering state-of-the-art endocrine testing for over four decades.

4 Our commitment to innovative Diagnostics and our dedication to quality and service means we deliver solutions that enable you to make informed clinical decisions for comprehensive patient management. We strive to remain at the forefront of innovation in endocrine testing so you can deliver the highest level of patient Medullary Function/Catecholamines39627(X)Catechola mines, Fractionated, 24-Hour Urine314(X)Catecholamines, Fractionated, Plasma5244 Catecholamines, Fractionated, Random Urine16381 Catecholamines, Fractionated, Supine, Plasma16382 Catecholamines, Fractionated, Upright, Plasma39626(X)Catecholamines, Fractionated, and VMA, 24-Hour Urine16379 Chromogranin A, Electrochemiluminescence139527(X)Homovan illic Acid, 24-Hour Urine6346 Homovanillic Acid, Random Urine19548 Metanephrines, Fractionated, Free, LC/MS/MS, Plasma14962(X)Metanephrines, Fractionated, LC/MS/MS, 24-Hour Urine14961(X)

5 Metanephrines, Fractionated, LC/MS/MS, Random Urine889 Pheochromocytoma Evaluation2 Detects mutations in RET, SDHB, and (X)VMA (Vanillylmandelic Acid), 24-Hour Urine1710 VMA (Vanillylmandelic Acid), Random UrineAdrenocortical Function See below for congenital adrenal (Adrenoleukodystrophy) DNA Sequencing Test2211 ACTH, Plasma4645 Adrenal Antibody Screen with Reflex to Titer 19552(X) 229 Aldosterone, 24-Hour Urine17181 Aldosterone, LC/MS/MS Aldosterone/Cortisol Ratio Aldosterone/Cortisol Ratio, Adrenal Vein Sampling16845 Aldosterone/Plasma Renin Activity Ratio, LC/MS/MS5276(X)3 -Androstanediol Glucuronide (3-Alpha Diol G)17182 Androstenedione, LC/MS/MS6547(X)Corticosterone, LC/MS/MS37371 Cortisol Binding Globulin (Transcortin)37355(X)Cortisol, Free and Cortisone, 24-Hour Urine37077(X)Cortisol, Free and Total, LC/MS/MS36423(X)Cortisol, Free, LC/MS/MS11280(X)Cortisol, Free, LC/MS/MS, 24-Hour Urine90582 Cortisol, Free, LC/MS/MS, Second Void Urine19897(X)Cortisol, LC/MS/MS, Saliva11281(X)Cortisol, Total, LC/MS/MS37554(X)Cortisone, 24-Hour Urine37098(X)Cortisone, Serum390973 Deoxycorticosterone3054311-Deoxycortisol , LC/MS/MS, Serum29391(X)Dexamethasone19894 DHEA (Dehydroepiandrosterone), Unconjugated, LC/MS/MS38954 DHEA (Dehydroepiandrosterone), Urine402 DHEA Sulfate36168 Dihydrotestosterone, Free, Serum190567 Dihydrotestosterone, LC/MS/MS136707(X)Hirsutism Panel 2 Includes androstenedione, DHEA sulfate, and free and total with Creatinine, 24-Hour Urine11178(X)18-Hydroxycortisol, Free, 24-Hour Urine38071(X)

6 6 Beta-Hydroxycortisol, 24-Hour Urine37916(X)21-Hydroxylase Antibody835217-Hydroxypregnenolone, LC/MS/MS1718017-Hydroxyprogesterone, LC/MS/MS17654(X)17-Hydroxyprogesterone, Neonatal/Infant15201(X)17-Ketosteroids with Creatinine, 24-Hour Urine70184(X)17-Ketosteroids, Fractionated, Pediatrics, Urine4932(X)17-Ketosteroids, Fractionated, Urine814NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test216846 Plasma Renin Activity, LC/MS/MS738 Pregnanetriol, Urine31493(X)Pregnenolone, LC/MS/MS816 Primary Adrenal Insufficiency Evaluation2 Detects mutations (including point mutations, deletions, insertions, and rearrangements) in ABCD1, AIRE, and NR0B1. 17183 Progesterone, LC/MS/MS30740 Sex Hormone Binding Globulin14966 Testosterone, Free, Bioavailable, and Total, LC/MS/MS36170 Testosterone, Free (Dialysis) and Total (LC/MS/MS)37073 Testosterone, Total and Free and Sex Hormone Binding Globulin15983 Testosterone, Total, LC/MS/MS39613(X)Tetrahydroaldosterone, Urine8181 Hemoglobin A1c with Calculated Mean Plasma Glucose (MPG)16802 Hemoglobin A1c with eAG16715 Hemoglobin A1c with Reflex to GlycoMark 802 HNF4A (MODY1) DNA Sequencing and Deletion Test237054(Z) -Hydroxybutyrate36177(X)IA-2 Antibody36590 IGF Binding Protein-1 (IGFBP-1)1853 INS (NDM) DNA Sequencing Test2561 Insulin36178 Insulin Autoantibody36700 Insulin, Free (Bioactive)91083 Insulin, LC/MS/MS834 IPF1 (MODY4) DNA Sequencing Test2841 IPF1 (NDM)

7 DNA Sequencing Test23 6741 Islet Cell Antibody Screen with Reflex to Titer2843 KCNJ11 (NDM) DNA Sequencing Test291398 Metabolic Syndrome and Glucose Control Including InsulinIncludes cholesterol, total and HDL; glucose; insulin, LC/MS/MS; triglycerides; and calculated , 24-Hour Urine (with Creatinine)4555 Microalbumin, 24-Hour Urine (without Creatinine)6517 Microalbumin, Random Urine (with Creatinine)1 7674 Microalbumin, Random Urine (without Creatinine)885 Monogenic Diabetes (MODY) Evaluation2 Includes sequencing and deletion detection in GCK, HNF4A, TCF1, and TCF2 and sequencing of Diabetes Mellitus Evaluation2 Detects mutations in ABCC8, GCK, INS, IPF1, and , Random Urine677 Osmolality, Serum760(X)Proinsulin434480 Somatostatin1804 TCF1 (MODY3) DNA Sequencing and Deletion Test2805 TCF2 (MODY5) DNA Sequencing and Deletion Test2 Dynamic Testing17832(X)Aldosterone, Response to ACTH Stimulation, LC/MS/MS 19511(X)Androstenedione Response to ACTH Stimulation, LC/MS/MS10068(X)

8 Catecholamines, Total, Suppression by Clonidine, Plasma16434 Cortisol, Free, Response to ACTH Stimulation38149(X)Cortisol Response to ACTH Stimulation, Serum C-Peptide Response to Glucose14747(X)C-Peptide Stimulation by Glucagon Growth Hormone, Multiple Specimens17682(X)17-Hydroxyprogesterone Response to ACTH Stimulation Insulin Response to Glucose Proinsulin Response to Glucose4 Endocrine Autoimmunity4645 Adrenal Antibody with Reflex to Titer812 Autoimmune Polyglandular Syndrome (AIRE) Evaluation2 Detects point mutations, deletions, insertions, and rearrangements in Parietal Cell Antibody, ELISA34878 Glutamic Acid Decarboxylase-65 Antibody37072(X)Growth Hormone Antibody337916(X)21-Hydroxylase Antibody36177(X)IA-2 Antibody36178 Insulin Autoantibody3 6741 Islet Cell Antibody Screen with Reflex to Titer336578 PTH Antibody136574T3 (Triiodothyronine) Antibody136576T4 (Thyroxine) Antibody15738 TBII (Thyrotropin-Binding Inhibitory Immunoglobulin)267 Thyroglobulin Antibody7260(X)Thyroid Peroxidase and Thyroglobulin Antibodies5081 Thyroid Peroxidase Antibody (Anti-TPO)36577 TSH Antibody130551 TSI (Thyroid Stimulating Immunoglobulin)Endocrine Genetics827 ABCC8 (CH) DNA Sequence Test2815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test2711 ACTN4 DNA Sequencing Test214531 Acylcarnitine, Plasma29881 Amino Acid Analysis, LC/MS, CSF767(X)Amino Acid Analysis, LC/MS, Plasma36183 Amino Acid Analysis, LC/MS, Urine19779(X)

9 Amino Acid Analysis for MSUD, LC/MS, PlasmaTest CodeTest NameCongenital Adrenal Hyperplasia (CAH)14755(X)CAH (21-Hydroxylase Deficiency) Common Mutations1 Detects 11 CYP21A2 gene mutations and the 30kb (X)CAH (21-Hydroxylase Deficiency) Rare Mutations1 Includes sequencing of the entire CYP21A2 (X)CAH Panel 1 (21-OH vs 11- OH)Includes 17-hydroxyprogesterone/11-deoxycortisol ratio, 11-deoxycortisol/cortisol ratio, androstenedione, and total (X)CAH Panel 3 (aldosterone synthase deficiency)Includes 17-OH progesterone/11-deoxycortisol ratio, and 18-hydroxycorticosterone/aldosterone (X)CAH Panel 4 (17-OH deficiency in females)Includes progesterone/17-hydroxyprogesterone ratio, corticosterone, cortisol, aldosterone, and (X)CAH Panel 6 (StAR deficiency)Includes cortisol, pregnenolone, DHEA, and Panel 6C (Full Screen)Includes androstenedione, cortisol, 11-deoxycortisol, DHEA, 17-hydroxypregnenolone, 17-hydroxyprogesterone, progesterone, and total (X)CAH Panel 7 (steroid replacement therapy monitoring)Includes androstenedione, total testosterone, (X)CAH Panel 8 (17-OH deficiency in males)Includes progesterone/17-hydroxyprogesterone ratio, corticosterone, cortisol, aldosterone, and total (X)CAH Panel 9 (3 -HSD deficiency)Includes 17-hydroxypregnenolone/17-hydroxyprogest erone ratio, DHEA/androstenedione ratio, and (X)CAH Panel 11, Neonatal Random UrineIncludes 17-OH pregnanolone; 15, 17-(OH)2-pregnanolone; 16-OH DHEA; pregnanetriol; tetrahydro 11-deoxycortisol; pregnanetriolone; 16-OH pregnenolone; pregnenetriol.

10 Tetrahydrocortisone; 6-OH tetrahydro 11-deoxycortisol; tetrahydro 11-dehydrocorticosterone; A-cortolone; B-cortolone; and 6-OH tetrahydro Adrenal Hyperplasia (CAH) Evaluation2 Includes sequencing and deletion detection in CYP21A2 and sequencing of (CAH) DNA Sequencing Test2877 CYP17A1 DNA Sequencing Test2880 CYP21A2 (CAH) DNA Evaluation2 Includes sequencing of the entire CYP21A2 gene, as well as detection of the common 30kb , LC/MS/MS, Serum878 HSD3B2 DNA Sequencing Test21718017-Hydroxyprogesterone, LC/MS/MS17654(X)17-Hydroxyprogesterone, Neonatal/Infant8 74 Lipoid CAH (StAR) Evaluation2 Detects mutations (including point mutations, deletions, insertions, and rearrangements) in , Urine90397 Steroid Panel, 21-Hydroxylase Deficiency/ Stress DifferentiationIncludes 17-hydroxyprogesterone, androstenedione, and Panel, ComprehensiveIncludes androstenedione, corticosterone, cortisol, cortisone, deoxycorticosterone, 11-deoxycortisol, DHEA, 18-hydroxycorticosterone, 17-hydroxypregnenolone, 17-hydroxyprogest