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

Moleculargenetic Diagnostics

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Mental retardation

Prof. Dr. med. Elke Holinski-Feder, Dr. med. Stefanie Balg, Brigitte Schönfeld, Ärztin

Angelman Syndrome

ARX-associated Diseases - ARX

Beckwith-Wiedemann Syndrome

Coffin-Lowry Syndrome - RPS6KA3

Fragile X Syndrome - FMR1

Legius Syndrome - SPRED1

Opitz GBBB Syndrome, X-linked - MID1

Pitt-Hopkins Syndrome - TCF4

Prader-Willi Syndrome

Rett Syndrome - MECP2

MECP2-Duplication Syndrome

Rett syndrome with infantile epilepsy - CDKL5

Rett Syndrome, congenital variant - FOXG1

Silver Russell Syndrome

Sotos Syndrome - NSD1

X-linked mental retardation type Christianson - SLC9A6

X-Linked Mental Retardation, XLMR, Linkage

1p36 Microdeletion Syndrome

Williams Syndrome, Microdeletion 7q11.23

Microduplication 7q11.23

Microdeletion / Microduplication 16p11.2

Smith-Magenis Syndrome, Microdeletion 17p11.2 - RAI1

Potocki-Lupski Syndrome, Microduplication 17p11.2

Microdeletion 17q21.31

DiGeorge Syndrome, Microdeletion 22q11.2

Velocardiofacial Syndrome, Microdeletion 22q11.2

Microduplication 22q11.2

Phelan-McDermid Syndrome

Ichthyosis, X-linked, Microdeletion Xp22.31

Kallmann Syndrome, Microdeletion Xp22.31

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