Retardierungs- und Dysmorphiesyndrome

Angelman Syndrom (AS), Methylierungstest (1 Gene)

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Angelman-/Rett-ähnliche Phänotypen, ID 155.02 (29 Gene)

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Angelman-/Rett-ähnliche Phänotypen - Basisdiagnostik, ID 269.01 (9 Gene)

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Asymmetrischer Großwuchs und Phakomatosen, ID 270.01 (21 Gene)

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Asymmetrischer Großwuchs und Phakomatosen - Basisdiagnostik, ID 815.00 (9 Gene)

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Autismus, ID 839.00 (5 Gene)

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Autismus, Mikrodeletion 16p11.2, MLPA (1 Gene)

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Autosomal-rezessive mentale Retardierung, ID 838.00 (9 Gene)

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Autosomal-rezessive primäre Mikrozephalie (MCPH), ID 814.00 (8 Gene)

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Beckwith-Wiedemann Syndrom / BWS (Methylierungstest 11p15) (1 Gene)

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Coffin Siris Syndrom/Nicolaides Baraitser - Basisdiagnostik, ID 816.00 (6 Gene)

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Coffin-Lowry-Syndrom (RPS6KA3) (1 Gene)

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Coffin-Siris- und Nicolaides-Baraitser-Syndrom (CSS, NCBRS), ID 158.01 (8 Gene)

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Cohesinopathien und Differentialdiagnosen, ID 157.02 (9 Gene)

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Cornelia de Lange Syndrom/Cohesinopathien - Basisdiagnostik, ID 817.00 (6 Gene)

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Cornelia de Lange-Syndrom, ID 580.01 (7 Gene)

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Cri-du-chat-Syndrom (Mikrodeletion 5p15.2) (1 Gene)

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Differentialdiagnosen zum Prader Willi Syndrom (Leitsymptom Adipositas), ID 819.00 (4 Gene)

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DiGeorge-Syndrom, Mikrodeletion 22q11.2, MLPA (1 Gene)

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Fragiles-X-Syndrom/FXTAS, FMR1-Repeat (1 Gene)

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Geistige Behinderung - behandelbar, ID 922.00 (140 Gene)

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Hypochondroplasie/Achondroplasie/thanatophore Dysplasie (FGFR3) (1 Gene)

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Ichthyose, X-chromosomal, Mikrodeletion Xp22.31, MLPA (1 Gene)

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Kabuki Syndrom, ID 271.00 (2 Gene)

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Karyotypisierung (konventionelle Chromosomenanalyse) (1 Gene)

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Kleinwuchs - umfassende Diagnostik, ID 920.00 (89 Gene)

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Lipodystrophie Berardinelli-Seip (BSCL2) (1 Gene)

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M. Hirschsprung, Suszeptibilität, ID 844.00 (3 Gene)

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Makrozephalie, ID 156.03 (45 Gene)

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Makrozephalie - Basisdiagnostik, ID 272.02 (8 Gene)

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Menkes-Syndrom (ATP7A) (1 Gene)

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Metabolische Dysmorphiesyndrome, ID 273.00 (44 Gene)

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Microarray (hochauflösende Chromosomenanalyse) (1 Gene)

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Mikrodeletion Xp22.32, SHOX (1 Gene)

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Mikrozephalie - Basisdiagnostik, ID 822.00 (4 Gene)

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Miller-Dieker-Syndrom (17p13.3) (1 Gene)

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Mowat-Wilson-Syndrom (ZEB2) (1 Gene)

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Multiple epiphysäre Dysplasie, ID 833.00 (6 Gene)

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Neurofibromatose, ID 290.00 (1 Gene)

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Noonan-Syndrom - PTPN11 Gen, ID 159.01 (1 Gene)

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Noonan-Syndrom, weitere Gene, ID 285.02 (7 Gene)

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Opitz-GBBB-Syndrom (MID1) (1 Gene)

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Phelan-Mcdermid-Syndrom, Mikrodeletion 22q13.3, MLPA (1 Gene)

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Pitt-Hopkins-Syndrom (TCF4) (1 Gene)

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Prader-Willi Syndrom (PWS), Methylierungstest (1 Gene)

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Proportionierter Kleinwuchs mit/ohne Wachstumshormon-Auffälligkeiten, ID 829.01 (8 Gene)

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PTEN-assoziierte Erkrankungen (PTEN) (1 Gene)

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Rasopathien, ID 160.03 (22 Gene)

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Rett-Syndrom (MECP2) (1 Gene)

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Silver Russell Syndrom - Differentialdiagnosen, ID 830.00 (8 Gene)

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Silver-Russell Syndrom (BWS), Methylierungstest 11p15.5 (1 Gene)

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Silver-Russell Syndrom (BWS), Methylierungstest 7p12.1 und 7q32.2 (1 Gene)

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Skelettdysplasien - Basisdiagnostik, ID 831.00 (9 Gene)

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Smith-Magenis-Syndrom (RAI1) (1 Gene)

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Smith-Magenis-Syndrom, Mikrodeletion 17p11.2, MLPA (1 Gene)

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Sotos- und weitere Großwuchssyndrome, ID 291.00 (5 Gene)

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Stüve-Wiedeman-Syndrom (LIFR) (1 Gene)

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Syndromale Adipositas, ID 842.00 (11 Gene)

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Syndromale Erkrankungen - Gesamtpanel, ID 161.04 (474 Gene)

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Temple-Syndrom (Methylierungstest 14q32) (1 Gene)

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Uniparenterale Disomie Chromosom 11 (UPD11) (1 Gene)

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Uniparenterale Disomie Chromosom 14 (UPD14), Methylierungssensitive-MLPA (1 Gene)

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Uniparenterale Disomie Chromosom 15 (UPD15) (1 Gene)

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Uniparenterale Disomie Chromosom 7 (UPD7) (1 Gene)

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Unspezifische geistige Behinderung (AD de novo), ID 818.00 (7 Gene)

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Wachstumsretardierung, ID 810.00 (12 Gene)

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Weaver-Syndrom (EZH2) (1 Gene)

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Williams-Beuren-Syndrom, Mikrodeletion 7q11.23, MLPA (1 Gene)

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Wolf-Hirschhorn-Syndrom, Mikrodeletion 4p16.3, MLPA (1 Gene)

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X-chrom. Alpha-Thalassämie mit mentaler Retardierung (ATRX) (1 Gene)

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X-chromosomale mentale Retardierung, ID 154.02 (109 Gene)

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X-chromosomale mentale Retardierung - Basisdiagnostik, ID 268.01 (7 Gene)

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Ziliopathie - Basisdiagnostik, ID 821.00 (4 Gene)

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Ziliopathien, ID 755.00 (31 Gene)

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