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Next Generation Sequencing(Next Gen) Sunquest: NGS

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Next Generation Sequencing(Next Gen) Sunquest: NGS UNIVERSITY OF MINNESOTA PHYSICIANS OUTREACH LABS Submit this form along with the appropriate Molecular requisition (Molecular Diagnostics or MOLECULAR DIAGNOSTICS (612) 273-8445 Molecular NGS Oncology). DATE: TIME COLLECTED: PCU/CLINIC: AM PM PATIENT IDENTIFICATION DIAGNOSIS (Dx) / DIAGNOSIS CODES (ICD-9) - OUTPATIENTS ONLY SPECIMEN TYPE: o Blood (1) (2) (3) (4) PLEASE COLLECT 5-10CC IN ACD-A OR EDTA TUBE ORDERING PHYSICIAN NAME AND PHONE NUMBER: Tests can be ordered as a full panel, or by individual gene(s). Please contact the genetic counselor with any questions at 612-624-8948 or by pager at 612-899-3291. _______________________________________________ Test Ordered- EPIC: Next generation sequencing(Next Gen) Sunquest: NGS 17-beta-hydroxysteroid dehydrogenase Diabetes mellitus, transient neonatal, 1 Hyperthyroidism, nonautoimmune X deficiency ZFP57 TSHR HSD17B10 Insulin resistance, severe, digenic Hypogonadotropic hypogonadism Adrenal hyperplasia, congenita PPP1R3A Full panel Full panel PPARG CYP17A1 TAC3 Maturity-onset diabetes of the young CYP11B1 TACR3 Full panel CYP11A1 GNRH1 HNF4A Adrenocorticotropic hormone deficiency KISS1 GCK TBX19 WDR11 HNF1A Apparent mineralcorticoid excess HS6ST1 PDX1 HSD11B2 FGFR1 PAX4 Autoimmune polyendocrinopathy PROKR2 NEUROD1 syndrome PROK2 KLF11 AIRE CHD7 ACTH-independent macronodular CEL FGF8 adrenal hyperplasia INS GNRHR GNAS BLK Congenital hypothyroidism KISS1R Estrogen resistance PAX8 NSMF ESR1 Corticosteroid-binding globulin POLR3B ESR2 deficiency Hypoparathyroidism Glucocorticoid deficiency SERPINA6 Full panel Cortisol resistance MRAP Full panel NR3C1 FGD3 PTH Cortisone reductase deficiency 1 MC2R GCM2 H6PD Glucocorticoid-remediable Hypothryoidism, congenital, Cortisone reductase deficiency 2 aldosteronism nongoitrous HSD11B1 CYP11B2 Diabetes insipidus, neurohypophyseal Growth hormone insensitivity with Full panel AVP immunodeficiency TSHB Diabetes mellitus, insulin-resistant, with STAT5B TSHR acanthosis nigricans Hyperparathyroidism THRA INSR Follicle-stimulating hormone deficiency, Diabetes mellitus, neonatal, with isolated congenital hypothyroidism Full panel CDC73 GLIS3 CASR FSHB 4/1/2014 Version 1 Spermatogenic failure Pigmented nodular adrenocortical disease Full panel Full panel DAZL PRKAR1A AURKC PDE11A SEPT12 PDE8B KLHL10 Pituitary hormone deficiency SYCP3 Full panel SPATA16 PROP1 CATSPER1 LHX3 DPY19L2 LHX4 USP9Y llipodystrophy, congenital and POU1F1 pulmonary hypertension Immunodysregulation, polyendocrinopathy, and enteropathy, CAV1 X-linked Lipodystrophy, congenital generalized FOXP3 Full panel Pseudohypoaldosteronism AGPAT2 Full panel BSCL2 CUL3 CAV1 NR3C2 PTRF WNK4 Lipodystrophy, familial partial WNK1 KLHL3 Full panel STX16 LMNA Short stature, idiopathic familial PPARG SHOX PLIN1 Thyroid dyshormonogenesis CIDEC Full panel Obesity, adrenal insufficiency, and red DUOX2 hair due to POMC deficiency SLC5A5 POMC TPO Obesity with impaired prohormone TG processing IYD DUOXA2 PCSK1 SECISBP2 Ovarian dysgenesis/failure Thyroid hormone resistance Full panel THRB FSHR Thyroxine-binding globulin deficiency PSMC3IP SERPINA7 BMP15 DIAPH2 POF1B FOXL2 NOBOX FIGLA Pancreatic agenesis PDX1 4/1/2014 Version 1 .
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