Molekulargenetik

Entwicklungsstörungen / Mentale Retardierung

Aarskog-Scott Syndrom

FGD1

Achondrogenesie (ACG)

COL2A1, SLC26A2, TRIP11

Akrokallosales Syndrom

GLI3

Alagille Syndrom

JAG1, MLPA 20p12.2, NOTCH2

Angelman Syndrom

methylierungssensitive MLPA 15q11.2, UBE3A

ARX-assoziierte Erkrankungen

ARX

Atelosteogenesis Typ 2

SLC26A2

Autismus, nicht-syndromal

ADNP, CHD8, FOXP1, NLGN3, NLGN4X, PTCHD1, RAB39B, SHANK2

Autismus, syndromal, Basisdiagnostik

ADNP, CDKL5, EHMT1, FOXP1, MECP2, PTEN, RAI1, TCF4, UBE3A, ZEB2

Autismus, syndromal, erweiterte Diagnostik

ALDH5A1, AP1S2, ARX, ATRX, AUTS2, BRAF, CACNA1C, CASK, CHD7, CHD8, CNTNAP2, DHCR7, DPP6, FGD1, FOXG1, FOXP2, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTPN11, RAB39B, SCN1A, SHANK2, SHANK3, SLC9A6, SMARCB1, SMC1A, SMC3, TSC1, TSC2, UBE2A, VPS13B

Bainbridge-Ropers Syndrom

ASXL3

Beckwith-Wiedemann Syndrom

CDKN1C, methylierungssensitive MLPA11p15

BOR Syndrom

EYA1, SIX1, SIX5

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

ASXL1, EP300, TAF1

Corpus Callosum Agenesie

ARX, COL4A1, GLI3, L1CAM

Costello Syndrom

HRAS

Cri du Chat Syndrom

MLPA 5p15

Diastrophe Dysplasie

SLC26A2

DiGeorge Syndrom (DGS)

MLPA22q11, TBX1

Epiphysäre Dysplasie, rezessive multiple

SLC26A2

FG Syndrom

MED12

Fragiles-X Syndrom

Repeatanalyse: FMR1

Gorlin Syndrom

PTCH1

Greig-Zephalopolysyndaktylie Syndrom

GLI3

Holoprosenzephalie (HPE)

CDON, DHCR7, DLL1, EYA4, FBXW11, FGF8, GAS1, GLI2, GLI3, PTCH1, SHH, SIX3, SMAD2, TGIF1, ZIC2

Holt-Oram Syndrom

SALL4, TBX5

Hutchinson-Gilford Progerie Syndrom

LMNA

Hydrozephalus, X-chromosomal

L1CAM

Ichthyosis

STS

Kabuki Syndrom

KDM6A, KMT2D (MLL2)

Kallmann Syndrom (KAL)

CHD7, FGF8, FGFR1, KAL1, PROK2, PROKR2

Kardiofaziokutanes Syndrom (CFC)

BRAF, KRAS, MAP2K1, MAP2K2

Kraniosynostose Syndrome

FGFR1, FGFR2, FGFR3, MSX2, TWIST1

LADD Syndrome

FGF10, FGFR2, FGFR3

Langer-Giedion Syndrom

MLPA8q24, TRPS1

LEOPARD Syndrom

BRAF, PTPN11, RAF1

Lissenzephalie

ARX, DCX, FKRP, ISPD, NDE1, NUDC, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, TK2, TUBA1A, VLDLR

Lujan-Fryns Syndrom

MED12

Mabry Syndrom

PIGV

Makrozephalie mit Begleitsymptomen autosomal rezessiv

ASPA, DIS3L2, EIF2B5, GCDH, GFAP, GPSM2, HEPACAM, KIAA0196, MLC1, PIGN, RIN2, SNX14, STRADA

Makrozephalie und Extremitätenfehlbildungen, Basisdiagnostik

AKT1, AKT3, CCND2, GLI3, OFD1, PTCH1

Makrozephalie und Extremitätenfehlbildungen, erweiterte Diagnostik

ASPA, BRWD3, CCDC88C, CCND2, CHD8, CUL4B, DIS3L2, DNMT3A, EIF2B5, EZH2, GCDH, GFAP, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, IGF2, KIAA0196, KIF7, KPTN, L1CAM, MED12, MLC1, NFIX, NSD1, PHF6, PIGA, PIGN, PIGT, PIK3CA, PTEN, RAB39B, RIN2, RNF135, SETD2, SHANK3, SNX14, STRADA, SYN1, TBC1D7

Makrozephalie: Sotos- und Sotos-ähnliche Syndrome

DNMT3A, EZH2, GPC3, NFIX, NSD1, SETD2

Mandibulo-akrale Dysplasie (MAD)

LMNA

Mentale Retardierung, X-chromosomal

CASK, CUL4B, GDI1, GRIA3, IL1RAPL1, IQSEC2, KDM5C, OPHN1, PQBP1

Mikrodeletionssyndrom 17q12

MLPA 17q12

Mikrodeletionssyndrom 1p36

MLPA 1p36

Mikrodeletionssyndrom 22q11.2

MLPA 22q11.2, TBX1

Mikrodeletionssyndrom 22q13.2

MLPA 22q13.2

Mikrozephalie, primärerezessive

ASPM, CDK5RAP2, MCPH1, WDR62

Mikrozephalie, syndromal, Basisdiagnostik

KDM6A, KMT2D(MLL2)

Mikrozephalie, syndromal, erweiterte Diagnostik

ANKRD11, CREBBP, EP300, HDAC8, NIPBL, RAD21, RPS6KA3 (RSK2), SMC1A, SMC3

Miller-Dieker Lissenzephalie Syndrom

MLPA 17p13.3, PAFAH1B1

Morbus Hirschsprung

EDN3, EDNRB, RET, SOX10, ZEB2

Mowat-Wilson Syndrom

ZEB2

Multiple hereditäre Exostosen (MHE)

EXT1, EXT2

Noduläre periventrikuläre Heterotypie (NPH)

ARFGEF2, FLNA

Noonan Syndrom

BRAF, KRAS, PTPN11, RAF1, RIT1, SOS1

Okihiro Syndrom

SALL4

Opitz Syndrom, X-gebunden

MID1

Pallister-Hall Syndrom

GLI3

Pendred Syndrom

FOXI1, KCNJ10, SLC26A4

Pflasterstein-Lissenzephalie

COL4A1, FKRP, FKTN, ISPD, POMGNT1, POMT1, POMT2

Pitt-Hopkins Syndrom

NRXN1, TCF4

Polymikrogyrie

PIK3CA, PIK3R2, TUBA1A, TUBB2B, WDR62

Potocki-Shaffer Syndrom

MLPA 11p11.2

Prader-Willi Syndrom

methylierungssensitive MLPA 15q11.2

Rasopathie

AKT3, CBL, HRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PIK3CA, PIK3R2, PPP1CB, RASA1, RASA2, RRAS, SHOC2, SOS2, SPRED1

Rett Syndrom

CDKL5, FOXG1, MECP2

Rett Syndrom und Rett Syndrom-ähnliche Erkrankungen

ARX, CDKL5, FOXG1, GABBR2, IQSEC2, MECP2, MEF2C, STXBP1, TCF4, UBE3A, ZEB2

Rhizomele Dysplasie

COL11A1, COL11A2, COMP, FGFR3, GPC6, PEX7, RMRP, SLC26A2, WNT5A

Rubinstein-Taybi Syndrom

CREBBP, EP300

Saethre-Chotzen Syndrom

MLPA7p21, TWIST1

Schizenzephalie

COL4A1, EMX2, SHH, SIX3, TUBB2B

Silver-Russell Syndrom

7p12, 7q32, methylierungssensitive MLPA 11p15

Simpson-Golabi-Behmel Syndrom Typ 1

GPC3

Skelettdysplasie / Kleinwuchs

FGFR3, SHOX

Smith-Lemli-Opitz Syndrom

DHCR7

Smith-Magenis / Potocki-Lupski Syndrom

MLPA 17p11.2, RAI1

Sotos Syndrom

NFIX, NSD1

Subtelomerscreening

MLPA

Tricho-rhino-phalangeales Syndrom Typ1 / Typ2 / Typ3

MLPA 8q24, TRPS1

Uniparentale Disomie

Chromosom 11, Chromosom 13, Chromosom 14, Chromosom 15, Chromosom 20, Chromosom 7

Waardenburg Syndrom

EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

WAGR Syndrom

MLPA 11p13-14

Williams-Beuren Syndrom

ELN, MLPA 7q11.23

Wolf-Hirschhorn Syndrom

MLPA 4p16.3

Xq28-Duplikationssyndrom / X-chromosomale mentale Retardierung Typ Lubs (MRXSL)

MLPA Xq28

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