Molekulargenetik

Erkrankungen Gene

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Anforderungsbeleg

AFB Molekulargenetik

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CHARGE Syndrom

CHD7, SEMA3E (Exon 17)

Chondrodysplasia punctata

AGPS, ARSE, EBP, GNPAT, KAL1, NSDHL, PEX5, PEX7

Coffin-Lowry Syndrom

RPS6KA3 (RSK2)

Coffin-Siris Syndrom, Basisdiagnostik

ARID1A, ARID1B, KMT2A, SMARCA4, SMARCB1, SMARCE1

Coffin-Siris Syndrom, erweiterte Diagnostik

DOCK6, GRIN2B, KMT2D (MLL2), PHF6, SHANK3, SMARCA2, SOX11

Cohen Syndrom

COH1 (VPS13B)

Cornelia de Lange Syndrom (CDLS), Basisdiagnostik

ANKRD11, HDAC8, NIPBL, RAD21, SMC1A, SMC3

Cornelia de Lange Syndrom (CDLS), erweiterte Diagnostik