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Diagenos Schilddrüsen/Endokr Zweigstelle Bielefeld Städt. Kliniken Bielefeld diagenos Schilddrüsen/Endokr. Ambulanz Caprivistr. 30 Raum U1.725 49076 Osnabrück Teutoburger Str. 50 Tel +49 (0)541-432761 33604 Bielefeld Humangenetische Gemeinschaftspraxis Fax +49 (0)541-80019905 Tel. +49 (0)541-432761 Dres. Gencik [email protected] [email protected] Fachärzte für Humangenetik www.diagenos.com www.genetik-bielefeld.de ANFORDERUNG FÜR MOLEKULARGENETISCHE DIAGNOSTIK Name, Vorname des Patienten Name, Vorname des Einsenders geboren am Klinik ggf. Anschrift des Patienten Anschrift Telefon Fax Email des Patienten Telefon Fax Email Selbst erkrankt? Ethnische Herkunft Abrechnung über!Material & Menge: weiblich ja männlich nein anfordernde Klinik EDTA Blut Heparin-Blut Kasse: Überweisung Speichelprobe Chorionzotten Verdachtsdiagnose Symptome DNA-Analysen Vorbefunde Selbstzahler Fruchtwasser andere: Datum der Abnahme: Stempel und Unterschrift des einsendenden Arztes Patient im diagenos bekannt? Familienangehörige im diagenos bekannt? ja ja nein nein !!!!Datum Einverständnis des Patienten / der Patientin / des (gesetzlichen) Vertreters (gemäß GenDG Voraussetzung für die Durchführung der Untersuchung!) - bzw. ggf. Kopie einer gemäß GenDG der verantwortlichen ärztlichen Person erteilten Einwilligungserklärung - Mit meiner Unterschrift bestätige ich nach erfolgter Aufklärung und ggf. genetischer Beratung und unter Kenntnis meines Widerrufsrechtes mein Einverständnis mit der/den geplanten genetischen Analyse(n) und der dafür erforderlichen Probenentnahme. Ich bin damit einverstanden, dass die erhobenen Ergebnisse in Papierform sowie in elektronischer Form entsprechend der gesetzlichen Vorgaben gespeichert und ggf. in anonymisierter Form für wissenschaftliche Zwecke genutzt/publiziert werden. Die Ergebnisse der Untersuchungen müssen nicht entsprechend der gesetzlichen Vorgaben nach 10 Jahren vernichtet werden, damit sie ggf. meiner Familie auch nach meinem Tod zur Verfügung stehen. Nach Abschluss der Analyse verbleibendes Untersuchungsmaterial übereigne ich hiermit gemäß § 950 BGB dem Labor, welches die Analyse durchgeführt hat. Ich bin damit einverstanden, dass ggf. Daten für Abrechnungszwecke an eine Ärztliche Verrechnungsstelle bzw. Kassenärztliche Vereinigung weitergeleitet werden. Alle Angaben, die ich gemacht habe, sowie alle Ergebnisse der Untersuchungen unterliegen der ärztlichen Schweigepflicht und werden ohne meine Zustimmung nicht an Dritte weitergegeben. Diese Einwilligungserklärung kann ich jederzeit ohne Angabe von Gründen widerrufen. Ich hatte die notwendige Bedenkzeit. Mit der Aufbewahrung von Untersuchungsmaterial zum Zwecke der Nachprüfbarkeit der Ergebnisse bzw. für ergänzende Untersuchungen bin ich einverstanden. ja nein Mit der Aufbewahrung und Verwendung von Untersuchungsmaterial für wissenschaftliche Untersuchungen (in anonymisierter Form) bin ich einverstanden. ja nein Ich bin mit der Befundübermittlung an folgende Ärzte einverstanden: Ich bin mit der Befundübermittlung an folgende Faxnummer einverstanden: Unterschrift Patient/gesetzlicher Vertreter Ort Datum Unterschrift Arzt/Ärztin Ort Datum MOLEKULARGENETISCHE DIAGNOSTIK Augenerkrankungen Aniridie PAX6 Chorioideremie CHM Lebersche Optikusatrophie Ataxie-okulomotorische Apraxie Exsudative Vitreoretinopathie 1 FZD4 Peters Anomalie CYP1B1 AOA1 APTX Exsudative Vitreoretinopathie 4 LRP5 Peters-Plus Syndrom B3GALTL AOA2 SETX Glaukom CYP1B1 Retinitis pigmentosa 1 Anterior Segment Dysgenesie PITX3 Katarakt RP1 RP1 Axenfeld-Rieger Syndrom 1 PITX2 altersbedingt kortikal 2 EPHA2 RP13 PRPF8 Bardet-Biedl Syndrom posterior polar 1 EPHA2 RP14 PRPH2 BBS1 BBS1 autosomal-dominant, 1 BFSP2 RP18 HPRP3 BBS10 BBS10 autosomal-dominant MIP RP3 RPGR BBS12 BBS12 posterior polar 4 PITX3 RP4 RHO BBS2 BBS2 Kearns-Sayre Syndrom Retinoschisis 1 RS1 BBS6 BBS6 Lebersche kongenitale Amaurose GUCY2D Epilepsien Absenceepilepsie der Kindheit GABRG2 Epilepsie, idiopathisch generalisiert CLCN2 Myoklonische Epilepsie Lafora ADLTE LGI1 Epilepsie, juvenile myoklonische EPM2A Benigne familiäre Neugeborenenkrämpfe CACNB4 EPM2B KCNQ2 GABRA1 MERRF MTTK KCNQ3 CLCN2 Myokl. Ep. Unverricht / Lundborg CSTB Benigne familiäre infantile Krämpfe Epilepsie, Pyridoxin-abhängig ALDH7A1 West Syndrom ARX BIFS1 & BIFS2 PRRT2 GEFS+ / Dravet Sy. SCN2A GABRD Epileptische Enzephalopathie SCN1B juvenil, myoklonisch EFHC1 SCN1A frühinfantil 2 CDKL5 GABRG2 frühinfantil 5 SPTAN1 PCDH19 frühinfantil 9 PCDH19 SCN9A Lennox-Gastaut MAPK10 GLUT1-Mangel GLUT1 Fehlbildungs- und Entwicklungsstörung Syndrome 46, XY Geschlechtsumkehr 7 DHH Costello Syndrom HRAS Miller-Dieker-Lissenzephalie-S. 17p13.3 46, XY Geschlechtsumkehr 3 NR5A1 CRASH Syndrom L1CAM Opitz Syndrom GBBB I MID1 Branchio Syndrom Hypophysen-Hormon-Mangel HESX1 Rubinstein-Taybi Syndrom 1 CREBBP BOS1 EYA1 PIT1 Seckel Syndrom 4 CENPJ BOS2 SIX5 PROP1 Septooptische Dysplasie HESX1 BOS3 SIX1 LHX4 Silver-Russell Syndrom chrom. 7 C Syndrom CD96 Ivemark Syndrom GJA1 (Cx43) Silver-Russell Syndrom 11p15.5 Cardiofaciocutanes Syndrom Joubert Syndrom INPP5E Simpson-Golabi-Behmel Syndrom 1 GPC3 CFC BRAF Lissenzephalie Smith-Lemli-Opitz Syndrom DHCR7 CFC KRAS LIS1 PAFAH1B1 Smith-Magenis Syndrom RAI1 Cohen Syndrom COH1 LIS2 RELN Townes-Brocks Syndrom SALL1 Cornelia de Lange Syndrom LIS3 TUBA1A Treacher Collins Syndrom TCOF1 CDLS1 NIPBL LIS YWHAE Trichorhinophalangeal Syndrom I & II TRPS1 CDLS2 SMC1A LISX2 ARX CDLS3 SMC3 MASA Syndrom L1CAM CDLS4 UBE2A Meckel Syndrom 1 MKS1 Geschlechtsentwicklung und Fertiliät CBAVD CFTR Spermatogenese-Defekt AZF Müllerscher Gang Syndrom AHM Swyer Syndrom SRY Haut- & Zahnerkrankungen Albinismus Ektodermale Dysplasie Incontinentia pigmenti IKBKG oculokutaner Ia TYR anhidrotisch EDA Nichtanlage von Zähnen oculokutaner II OCA2 anhidrotisch NFKBIA selektiv 1 MSX1 Amelogenesis imperfecta hidrotisch GJB6 selektiv 3 Pax9 AI IC ENAM hypohidrotisch EDAR Odontoonychodermale Dysplasie WNT10A AI IIA1 KLK4 hypohidrotisch EDARADD Oligodontie-Darmkrebs Syndrom Axin2 Angioödem, hereditärer Typ I C1NH Ektrodaktylie,ED und Lippenspalte TP63 Osler-Weber-Krankheit ENG Dyschromatosis symm. hered. 1 ADAR Gutartiger chronischee Pemphigus ATP2C1 Teleangiektasie, hämorrhagisch 2 ALK1 Hämatologische Erkrankungen/Gerinnungsstörungen Bernard-Soulier Syndrom GP1BA Faktor-XI-Mangel F11 Sichelzellanämie HBB Bernard-Soulier Syndrom GP1BB Faktor-XII-Mangel F12 Sphärozytose 4 SLC4A1 Beta Thalassämie HBB Fechtner Syndrom MYH9 Thrombasthenie Glanzmann-Naegeli ITGB3 Faktor-II-Mangel F2 May-Hegglin-Anomalie MYH9 Thrombozytopenie WAS Faktor-V-Mangel F5 Neutropenie, schwere kongenitale WAS Faktor-VII-Mangel F7 PAI1-Magel PAI Faktor-X-Mangel F10 Sebastian Syndrom MYH9 MOLEKULARGENETISCHE DIAGNOSTIK Herzerkrankungen Danon Krankheit LAMP2 Long QT Syndrom Velocardialfaciales Syndrom 22q11.2 DiGeorge Syndrom 2q11.2 LQTS2 KCNH2 Emery-Dreifuss MD 2 / 3 LMNA LQTS5 KCNE1 Kardiomyopathie dilatativ 1A LMNA LQTS6 KCNE2 Immunologische & rheumatische Erkrankungen Afibrinogenämie, angeborene Angeborene Afibrinogenämie Hepatitis C-Virus-Infektion FGA FGA Ansprechen auf die Therapie IL28B FGB FGB Hyper-IgE Syndrom STAT3 FGG FGG Leukozytenadhäsionsdefizienz Typ 1 LAD1 Agammaglobulinämie, X-chr. BTK Hämophagozytische Lymphohistiozytose Mannose-bindendes Lektin-Mangel MBL2 Anfälligkeit für Asthma bronchiale HNMT FHL2 PRF1 FHL3 UNC13D FHL4 STX11 FHL5 STXBP2 Mentale Retardierung Angelman Syndrom 15q11-q13 Mowat-Wilson Syndrom ZFHX1B Prader-Willi Syndrom 15q11-q13 Angelman Syndrom UBE3A Noonan Syndrom Rett Syndrom MECP2 Cornelia de Lange Syndrom NS1 PTPN11 Rett-like Syndrom CDKL5 CDLS1 NIPBL NS3 KRAS Subtelomeres Screening CDLS2 SMC1A NS4 SOS1 Williams-Beuren Syndrom 7q11.2 CDLS3 SMC3 NS5 RAF1 XLMR CDLS4 UBE2A NS6 NRAS Christianson SlC9A6 DiGeorge Syndrom 22q11.2 NS7 BRAF Nascimento UBE2A Fragiles X Syndrom A FMR1 Partington Syndrom ARX Fragiles X Syndrom E FMR2 Pitt-Hopkins Syndrom TCF4 Lujan-Fryns Syndrom MED12 Polymikrogyrie, bilat. frontoparietal GPR54 Metabolische und endokrine Erkrankungen/Fettstoffwechsel Abetalipoproteinämie MTP Hämochromatose MTHFR-Mangel MTHFR Adrenogenitales Syndrom klassische HFE Mukopolysaccharidose CYP11B1 Typ 2 HAMP MPS I h/s IDUA CYP17A1 Typ 3 TFR2 MPS IIIB NAGLU CYP21A2 Typ 4 SLC40A1 MPS IVA GALNS HSD3B2 Hyperkalzämie, infantile Cyp24A1 Neuroferritinopathie FTL Ahornsirupkrankheit Hypercholesterinämie Niemann-Pick-Krankheit Ib BCKDHA familiäre LDLR NPC1 NPC1 Ia BCKDHB B APOB NPC2 NPC2 II DBT Hyperferritinämie-Katarakt Syndrom FTL Pankreatitis Alpha-1-Antitrypsin Defizienz PI Hyperornithinämie-Hyperammonämie SLC25A15 PRSS1 Amyloidose, viscerale Form LYZ Hyperoxalurie 1 AGXT SPINK1 Apolipoprotein E Mangel APOE Hyperparathyreoidismus CASR Porphyrie Carnitinpalmitoyltransferase I-Mangel CPT1A Hypoparathyreoidismus akut intermittierend HMBS Cerebrotendinöse Xanthomatose CYP27A1 GCM2 erythropoetische UROS Cholestase, progr. intrahep. Typ3 ABCB4 PTH Propionazidämie Crigler-Najjar Syndrom Typ I UGT1A1 Koproporphyrie CPOX PCCA Cystische Fibrose CFTR Laron Zwergwuchs GHR PCCB Cystinurie SLC3A1 Leukoenzephalopathie LBSL DARS2 Pseudohypoaldosteronismus I NR3C2 Danon Krankheit LAMP2 Lipodystrophie 2 LMNA Pyridoxamin-5'-Phosphat-Oxidase-Mangel PNPO Diabetes mellitus, permanent neonatal KCNJ11 Maligne Hyperthermie RYR1 Refsum Krankheit
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