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  • Molekulargenetische Diagnostik
Download Request Forms of Diagnostics (GERMAN)

Molekulargenetische Diagnostik

Moleculargenetic Diagnostics

Contact person for molecular genetics tests

Frau Birgit Neitzel
Tel. +49 (0)89/30 90 886-553

MGZ
Medical Genetics Center

Bayerstraße 3-5 (durch die Mathäser-Passage)

Eingang Schlosserstraße 6
80335 München
info@mgz-muenchen.de
Tel. +49 (0)89/30 90 886-0
Fax +49 (0)89/30 90 886-66

Head
Prof. Dr. med. Dipl. chem. Elke Holinski-Feder

Moleculargenetic Diagnostics

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Epilepsies

PD Dr. med. Angela Abicht, Prof. Dr. Bernd Rautenstrauß, Prof. Dr. med. Elke Holinski-Feder

Genetic of Epilepsies

Infantile Epilepsy: Dravet Syndrome, SFM1 - SCN1A

Infantile Epilepsy with Mental Retardation (only girls) - PCDH19

Rett Syndrome with infantile epilepsy - CDKL5

Rett Syndrome, congenital variant - FOXG1

X linked West Syndrome - ARX

Infantile Epilepsy: Ohtahara Syndrome - STXBP1

X-linked mental retardation type Christianson - SLC9A6

Rett Syndrome - MECP2

Angelman Syndrome

GLUT1-Deficiency Syndrome - GLUT1

Generalised Epilepsy With Febrile Seizures Plus, GEFS+ - SCN1A, SCN1B, SCN2A, GABRD, GABRG2

Benign Familial Neonatal Convulsions, BFNC - KCNQ2, KCNQ3

Childhood Absence Epilepsy - CACNA1H, SLC2A1

Unverricht-Lundborg Disease, ULD - CSTB

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Das MGZ folgt den Empfehlungen der Gesellschaft für Humangenetik (GfH) und nimmt regelmäßig und mit Erfolg an externen qualitätssichernden
Maßnahmen (BVDH, EMQN) teil. Stand 04.02.2012 © MGZ - Medizinisch Genetisches Zentrum