Molekulargenetik
Entwicklungsstörungen / Mentale Retardierung
Anforderungsbeleg
AFB Molekulargenetik
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