Endocrinology Test List Endocrinology Test List
Total Page:16
File Type:pdf, Size:1020Kb
For Endocrinologists Endocrinology Test List Endocrinology Test List Extensive Capabilities Managing 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 treat. Comprehensive Care Quest Diagnostics Nichols Institute has been pioneering state-of-the-art endocrine testing for over four decades. 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 care. Abbreviations and Footnotes NDM, 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 deficiency. The tests highlighted in green are performed using highly specific and sensitive mass spectrometry detection. 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 (athenadiagnostics.com/content/test-catalog) 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 (QuestDiagnostics.com) for test information. 1 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 test. 2 This test was developed and its performance characteristics have been determined by Athena Diagnostics. Performance characteristics refer to the analytical performance of the test. 3 This test was developed and its performance characteristics have been determined by Quest Diagnostics Nichols Institute. It has not been cleared or approved by the U.S. 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 test. 4 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 means. Reflex tests are performed at an additional charge. The 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 protein. Quest Diagnostics – Endocrinology Test List Test Code Test Name Adrenal Medullary Function/Catecholamines Congenital Adrenal Hyperplasia (CAH) Hemoglobin A1c with Calculated Mean Plasma Glucose 8181 1 (MPG) 39627(X) Catecholamines, Fractionated, 24-Hour Urine 14755(X) CAH (21-Hydroxylase Deficiency) Common Mutations Detects 11 CYP21A2 gene mutations and the 30kb deletion. 314(X) Catecholamines, Fractionated, Plasma 16802 Hemoglobin A1c with eAG 1 16072(X) CAH (21-Hydroxylase Deficiency) Rare Mutations 16715 Hemoglobin A1c with Reflex to GlycoMark® 5244 Catecholamines, Fractionated, Random Urine Includes sequencing of the entire CYP21A2 gene. 802 HNF4A (MODY1) DNA Sequencing and Deletion Test2 16381 Catecholamines, Fractionated, Supine, Plasma CAH Panel 1 (21-OH vs 11-βOH) 16382 Catecholamines, Fractionated, Upright, Plasma 15269(X) Includes 17-hydroxyprogesterone/11-deoxycortisol ratio, 37054(Z) β-Hydroxybutyrate 11-deoxycortisol/cortisol ratio, androstenedione, and total testosterone. 39626(X) Catecholamines, Fractionated, and VMA, 24-Hour Urine 36177(X) IA-2 Antibody CAH Panel 3 (aldosterone synthase deficiency) 1 16379 Chromogranin A, Electrochemiluminescence1 15273(X) Includes 17-OH progesterone/11-deoxycortisol ratio, and 36590 IGF Binding Protein-1 (IGFBP-1) 18-hydroxycorticosterone/aldosterone ratio. 2 39527(X) Homovanillic Acid, 24-Hour Urine 853 INS (NDM) DNA Sequencing Test CAH Panel 4 (17-OH deficiency in females) 561 Insulin 6346 Homovanillic Acid, Random Urine 15274(X) Includes progesterone/17-hydroxyprogesterone ratio, corticosterone, cortisol, aldosterone, and estradiol. 19548 Metanephrines, Fractionated, Free, LC/MS/MS, Plasma 36178 Insulin Autoantibody 15276(X) CAH Panel 6 (StAR deficiency) 36700 Insulin, Free (Bioactive) 14962(X) Metanephrines, Fractionated, LC/MS/MS, 24-Hour Urine Includes cortisol, pregnenolone, DHEA, and aldosterone. 91083 Insulin, LC/MS/MS 14961(X) Metanephrines, Fractionated, LC/MS/MS, Random Urine CAH Panel 6C (Full Screen) 834 IPF1 (MODY4) DNA Sequencing Test2 Pheochromocytoma Evaluation2 16978 Includes androstenedione, cortisol, 11-deoxycortisol, DHEA, 889 17-hydroxypregnenolone, 17-hydroxyprogesterone, progesterone, and 2 Detects mutations in RET, SDHB, and VHL. total testosterone. 841 IPF1 (NDM) DNA Sequencing Test 39517(X) VMA (Vanillylmandelic Acid), 24-Hour Urine 36741 Islet Cell Antibody Screen with Reflex to Titer2 15277(X) CAH Panel 7 (steroid replacement therapy monitoring) 1710 VMA (Vanillylmandelic Acid), Random Urine Includes androstenedione, total testosterone, 17-hydroxyprogesterone. 843 KCNJ11 (NDM) DNA Sequencing Test2 Adrenocortical Function See below for congenital adrenal hyperplasia. CAH Panel 8 (17-OH deficiency in males) Metabolic Syndrome and Glucose Control Including Insulin 15279(X) Includes progesterone/17-hydroxyprogesterone ratio, corticosterone, 2 91398 Includes cholesterol, total and HDL; glucose; insulin, LC/MS/MS; 815 ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test cortisol, aldosterone, and total testosterone. triglycerides; and calculated components. 211 ACTH, Plasma CAH Panel 9 (3β-HSD deficiency) 15281 Microalbumin, 24-Hour Urine (with Creatinine) 15280(X) Includes 17-hydroxypregnenolone/17-hydroxyprogesterone ratio, 4645 Adrenal Antibody Screen with Reflex to Titer DHEA/androstenedione ratio, and cortisol. 4555 Microalbumin, 24-Hour Urine (without Creatinine) 19552(X) Aldosterone, 24-Hour Urine CAH Panel 11, Neonatal Random Urine 6517 Microalbumin, Random Urine (with Creatinine) 229 Includes 17-OH pregnanolone; 15, 17-(OH)2-pregnanolone; 16-OH 17674 Microalbumin, Random Urine (without Creatinine) 17181 Aldosterone, LC/MS/MS 10046(X) DHEA; pregnanetriol; tetrahydro 11-deoxycortisol; pregnanetriolone; 16- OH pregnenolone; pregnenetriol; tetrahydrocortisone; 6-OH tetrahydro Monogenic Diabetes (MODY) Evaluation2 † Aldosterone/Cortisol Ratio 11-deoxycortisol; tetrahydro 11-dehydrocorticosterone; A-cortolone; 885 Includes sequencing and deletion detection in GCK, HNF4A, TCF1, B-cortolone; and 6-OH tetrahydro 11-dehydrocorticosterone. and TCF2 and sequencing of IPF1. † Aldosterone/Cortisol Ratio, Adrenal Vein Sampling Congenital Adrenal Hyperplasia (CAH) Evaluation2 2 882 Neonatal Diabetes Mellitus Evaluation 16845 Aldosterone/Plasma Renin Activity Ratio, LC/MS/MS 879 Includes sequencing and deletion detection in CYP21A2 and Detects mutations in ABCC8, GCK, INS, IPF1, and KCNJ11. sequencing of CYP11B1. 5276(X) 3α-Androstanediol Glucuronide (3-Alpha Diol G) 678 Osmolality, Random Urine 875 CYP11B1 (CAH) DNA Sequencing Test2 17182 Androstenedione, LC/MS/MS 677 Osmolality, Serum 877 CYP17A1 DNA Sequencing Test2 6547(X) Corticosterone, LC/MS/MS 760(X) Proinsulin4 CYP21A2 (CAH) DNA Evaluation2 37371 Cortisol Binding Globulin (Transcortin) 880 Includes sequencing of the entire CYP21A2 gene, as well as detection of 34480 Somatostatin1 the common 30kb deletion. 37355(X) Cortisol, Free and Cortisone, 24-Hour Urine 804 TCF1 (MODY3) DNA Sequencing and Deletion Test2 30543 11-Deoxycortisol, LC/MS/MS, Serum 37077(X) Cortisol, Free and Total, LC/MS/MS 805 TCF2 (MODY5) DNA Sequencing and Deletion Test2 878 HSD3B2 DNA Sequencing Test2 36423(X) Cortisol, Free, LC/MS/MS Dynamic Testing 17180 17-Hydroxyprogesterone, LC/MS/MS 11280(X) Cortisol, Free, LC/MS/MS, 24-Hour Urine 17832(X) Aldosterone, Response to ACTH Stimulation, LC/MS/MS 17654(X) 17-Hydroxyprogesterone, Neonatal/Infant 90582 Cortisol, Free, LC/MS/MS, Second Void Urine Androstenedione Response to ACTH Stimulation, 2 19511(X) 19897(X) Cortisol, LC/MS/MS, Saliva Lipoid CAH (StAR) Evaluation LC/MS/MS 874 Detects mutations (including point mutations, deletions, insertions, and 11281(X) Cortisol, Total, LC/MS/MS rearrangements) in StAR. 10068(X) Catecholamines, Total, Suppression by Clonidine, Plasma 37554(X) Cortisone, 24-Hour Urine 738 Pregnanetriol, Urine 16434 Cortisol, Free, Response to ACTH Stimulation 37098(X) Cortisone, Serum3 Steroid Panel, 21-Hydroxylase Deficiency/ 38149(X) Cortisol Response