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Spektrum Humangenetik 2016 Spektrum Humangenetik 2016 LABORATORIUMSMEDIZIN | INFEKTIONSMEDIZIN | IMMUNOLOGIE | HÄMOSTASEOLOGIE HUMANGENETIK | TOXIKOLOGIE | DRUG MONITORING | PATHOLOGIE Inhalt Ansprechpartner Humangenetik ..................................................................................... 5 Ansprechpartner Außendienst ........................................................................................ 5 Telefonliste ...................................................................................................................... 6 Humangenetische Beratung ........................................................................................... 8 Anwendung des Gendiagnostik-Gesetzes in der täglichen Praxis ............................... 12 Einwilligungserklärung gemäß GenDG ........................................................................ 14 Index ............................................................................................................................. 15 Analysenverzeichnis ..................................................................................................... 32 2 Ich freue mich sehr, Ihnen die erste Auflage unseres Humangenetik-Spektrums präsentieren zu dürfen. Gegründet 1983, mit dem Anspruch, das führende Refe- renzlabor in Norddeutschland zu sein, bietet Ihnen das Labor Lademannbogen heute modernste Labormedizin. Um jeden Patienten mit der bestmöglichen Labormedizin zu versorgen, haben wir eines der größten analytischen Leistungsspektren in Norddeutschland aufgebaut. Neun labormedizinische Fach- bereiche unter der Leitung von 16 Ärzten und Wissenschaft- lern decken mit mehr als 8.000 Messgrößen das gesamte Spektrum labormedizinischer Fragestellungen ab. Mit unserem Team von Labormedizinern, Mikrobiologen, Viro- logen, Infektiologen, Klinischen Chemikern, Molekularbiolo- gen und Humangenetikern tragen wir durch unsere Laborer- gebnisse und medizinische Beratung zu einer hochwertigen medizinischen Versorgung Ihrer Patienten bei. Wir unterstüt- zen und beraten Sie gern bei allen Fragen zu Untersuchun- gen, bei der Befundinterpretation sowie bei diagnostischen und therapeutischen Fragestellungen. Mit freundlichen Grüßen Priv.-Doz. Dr. Thomas Brinkmann Geschäftsführer Hamburg, September 2016 3 Ich freue mich, Ihnen mit dem vorliegenden Buch unser Lei- stungsspektrum in der Humangenetik präsentieren zu dürfen. Die Humangenetik im Labor Lademannbogen hat in den ver- gangenen 20 Jahren ein umfangreiches Spektrum an neuen genetischen Testverfahren etabliert, mit dem wir Einsender in ganz Deutschland und Europa versorgen. Neben modernster Analytik bieten wir Ihnen kurze Bearbei- tungszeiten und eine persönliche Beratung bei allen Fragen aus dem Bereich der humangenetischen Diagnostik. Patien- ten sind in unserer humangenetischen Beratung herzlich will- kommen. Unser gesamtes Analysenspektrum sowie weitere fachrelevante Informationen und Updates stehen Ihnen auch online auf unserer Internetseite www.labor-lademannbogen. de zur Verfügung. Wir hoffen, dass Ihnen unser Humangenetik Spektrum hilfrei- che Informationen zur Abklärung genetisch bedingter Erkran- kungen liefert und wir freuen uns über Ihre Rückmeldungen. Mit freundlichen Grüßen Dr. med. Franziska Stellmer FÄ für Humangenetik / Abteilungsleiterin Hamburg, September 2016 4 Ansprechpartner Humangenetik HUMANGENETIK Dr. med. F. Stellmer L. Kochhan Dr. R. Achmann FÄ für Humangenetik Wiss. Mitarbeiter Wiss. Mitarbeiter Tel.: (040) 538 05-853 Tel.: (040) 538 05-156 Tel.: (040) 538 05-852 Ansprechpartner Außendienst AUSSENDIENST T. Sass C. Loges D. Schröter T. Sackmann Praxisbetreuung Außendienst Außendienst Außendienst Tel.: (040) 538 05-603 Hamburg Schleswig-Holstein Niedersachsen 5 Telefonliste BEFUNDINTERPRETATION + BERATUNG Laboratoriumsmedizin Klinische Chemie Dr. J. Wilhelm .....................................................................................(040) 53805 - 691 Dr. A. Lämmel .....................................................................................(040) 53805 - 116 Hämatologie Dr. F. Korioth .......................................................................................(040) 53805 - 183 Gerinnung Dr. M. Haddad .....................................................................................(040) 53805 - 507 Autoimmundiagnostik M. Daniels ..........................................................................................(040) 53805 - 142 Medikamentenspiegel / Toxikologie Dr. J. Hartleb .......................................................................................(040) 53805 - 197 Dr. H. Ertl ............................................................................................(040) 53805 - 804 Infektionsmedizin Mikrobiologie / Hygiene Prof. Dr. Dr. H. Sahly ............................................................................(040) 53805 - 104 Dr. S. Korten .......................................................................................(040) 53805 - 243 Dr. M.-A. Horstkotte ............................................................................(040) 53805 - 106 Molekulare und serologische Diagnostik Dr. G. Mohrmann .................................................................................(040) 53805 - 133 Dr. C. Noah .........................................................................................(040) 53805 - 706 Humangenetik Humangenetik Dr. F. Stellmer .....................................................................................(040) 53805 - 853 Molekulargenetik L. Kochhan .........................................................................................(040) 53805 - 156 Dr. R. Achmann ...................................................................................(040) 53805 - 852 6 7 SERVICE Zentrale ............................................................................................................(040) 53805 - 0 Mo-Fr 7:00-19:00 Uhr Befundauskunft Laborgemeinschaft .............................................................................(040) 53805 - 399 Facharztlabor ......................................................................................(040) 53805 - 450 Fahrdienst C. Kruse .............................................................................................(040) 53805 - 340 A. Böhme ...........................................................................................(040) 53805 - 105 DFÜ-Betreuung M. Makowski ......................................................................................(040) 53805 - 272 T. Jekutsch .........................................................................................(040) 53805 - 272 Versandmaterial H. Dobrolinska ....................................................................................(040) 53805 - 139 Praxisbetreuung T. Sass ...............................................................................................(040) 53805 - 603 Abrechung I. Carstens ..........................................................................................(040) 53805 - 724 Fortbildung / Anforderungsscheine G. Lackorzynski ...................................................................................(040) 53805 - 606 Qualitätsmanagement A. Harasym .........................................................................................(040) 53805 - 351 C. Frers ..............................................................................................(040) 53805 - 305 star.net® (Order Entry) N. Grube .............................................................................................(040) 53805 - 666 A. Wawrowski .....................................................................................(040) 53805 - 666 6 7 Humangenetische Beratung WER KANN SICH GENETISCH BERATEN LASSEN? Grundsätzlich kann jeder eine humangenetische Beratung in Anspruch nehmen, der mehr Informa- tionen zu einer bei ihm bekannten genetischen Erkrankung erhalten möchte oder für eine mögli- cherweise vorliegende genetische Veränderung eine Risikoabschätzung und ggf. Testung wünscht. Häufige Anlässe für eine genetische Beratung sind beispielsweise: • Familiäre Krebserkrankungen • Fehlbildungen und / oder Entwicklungsverzögerung bei Kindern • Erbliche Stoffwechselstörungen und Fiebererkrankungen • Erbliche neurologische Erkrankungen • Unerfüllter Kinderwunsch und gehäufte Fehlgeburten • Schwangerschaften mit auffälligem Ultraschallbefund, auffälliger genetischer Untersuchung 8 oder bei Medikamenten- oder Drogeneinnahme • Frage nach einem möglichen heterozygoten Anlageträgerstatus für eine bestimmte genetische Erkrankung bei Nachkommen. ABLAUF DER GENETISCHEN BERATUNG Zu Beginn jeder Beratung steht eine ausführliche Erhebung der medizinischen Vorgeschichte unter besonderer Berücksichtigung der jeweiligen Fragestellung und der Familienvorgeschichte (Stamm- baum zeichnen). Bei Bedarf erfolgt auch eine körperliche Untersuchung. Im zweiten Schritt klären wir über die jeweilige genetische Erkrankung auf, besprechen Risiken und geben einen Überblick über mögliche genetische Untersuchungen sowie deren Vor- und Nachteile. Im Anschluss kann, sofern gewünscht, eine genetische Testung veranlasst werden. Insbesondere bei genetischen Untersuchungen mit großer Tragweite kann die Testung auch erst zu einem späte- ren Zeitpunkt nach ausreichend Bedenkzeit durchgeführt werden. Patient und behandelnder Arzt erhalten nach der genetischen Beratung ein ausführliches human- genetisches Gutachten. WAS SOLLTE ZUR BERATUNG MITGEBRACHT WERDEN? • Einen gültigen
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