Einrichtung

Gemeinschaftspraxis für Humangenetik Dres. med. A. Bier, St. Krüger, S. Reif, M. Timmer

Gutenbergstr. 5
01307 Dresden
Germany

Leiter bzw. Ansprechpartner der Einrichtung

PD Dr. med. Stefan Krüger

Kategorisierung

  •  Genetische Beratung
  •  Zytogenetik
  •  Molekulare Zytogenetik
  •  Molekulargenetik
  •  Tumorzytogenetik

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
GDAP1
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis607706
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SCN9A
Epilepsy, generalized, with febrile seizures plus, type 7613863
  • Sanger-Sequenzierung
PIGV
Hyperphosphatasia with mental retardation syndrome 1239300
  • Sanger-Sequenzierung
HADH
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY231530
  • Sanger-Sequenzierung
EDNRB
ABCD SYNDROME600501
  • Sanger-Sequenzierung
MTP
Abetalipoproteinemia200100
  • Sanger-Sequenzierung
COL2A1
ACHONDROGENESIS, TYPE 2200610
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FGFR3
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
PRKAR1A
Acrodysostosis 1, with or without hormone resistance101800
  • Sanger-Sequenzierung
PDE4D
Acrodysostosis 2, with or without hormone resistance614613
  • Sanger-Sequenzierung
GDF5
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE201250
  • Sanger-Sequenzierung
AMPD1
ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1102770
  • Sanger-Sequenzierung
ADRENAL HYPERPLASIA II201810
  • Sanger-Sequenzierung
CYP21
CYP21A2
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TP63
ADULT SYNDROME103285
  • Sanger-Sequenzierung
ATRIP
SAMHD1
AICARDI-GOUTIERES SYNDROME225750
  • Sanger-Sequenzierung
OA1
ALBINISM, OCULAR, TYPE I; OA1300500
  • Sanger-Sequenzierung
OCA2
ALBINISM, OCULOCUTANEOUS, TYPE II203200
  • Sanger-Sequenzierung
TYRP1
Albinism, oculocutaneous, type III203290
SLC24A5
Albinism, oculocutaneous, type VI113750
  • Sanger-Sequenzierung
C10ORF11
Albinism, oculocutaneous, type VII615179
  • Sanger-Sequenzierung
GNAS
ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO103580
  • Sanger-Sequenzierung
GFAP
ALEXANDER DISEASE203450
  • Sanger-Sequenzierung
POLG
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS203700
  • Sanger-Sequenzierung
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX301040
  • Sanger-Sequenzierung
COL4A3
COL4A4
ALPORT SYNDROME, AUTOSOMAL RECESSIVE203780
  • Sanger-Sequenzierung
COL4A5
ALPORT SYNDROME, X-LINKED; ATS301050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
APOE
ALZHEIMER DISEASE 2, LATE-ONSET; AD2104310
  • Sanger-Sequenzierung
PRNP
ALZHEIMER DISEASE, EARLY-ONSET FAMILIAL, WITH COEXISTING AMYLOID AND PRION PATHOLOGY605055
  • Sanger-Sequenzierung
PSEN1
ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3607822
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
APP
MAPT
ALZHEIMER DISEASE; AD104300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
VABP
Amyothrophic lateral sclerosis 8; ALS8608627
  • Sanger-Sequenzierung
TARDB/TDP-43
AMYOTROPHIC LATERAL SCLEROSIS 10612069
  • Sanger-Sequenzierung
FIG4
Amyotrophic lateral sclerosis 11612577
  • Sanger-Sequenzierung
ALS2
Amyotrophic Lateral Sclerosis 2, juvenile; ALS2205100
  • Sanger-Sequenzierung
FUS
Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia608030
  • Sanger-Sequenzierung
ANG
Amyotrophic lateral sclerosis 9611895
  • Sanger-Sequenzierung
KCNJ2
ANDERSEN-TAWIL SYNDROME170390
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
AR
ANDROGEN INSENSITIVITY SYNDROME; AIS300068
  • Sanger-Sequenzierung
KLF1
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV (CDAN4)613673
  • Sanger-Sequenzierung
SLC25A38
Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive205950
  • Sanger-Sequenzierung
ALAS2
Anemia, sideroblastic, X-linked300751
  • Sanger-Sequenzierung
SMAD3
Aneurysms-osteoarthritis syndrome613795
  • Sanger-Sequenzierung
C1NH
ANGIOEDEMA, HEREDITARY; HAE106100
  • Sanger-Sequenzierung
AN2
ANIRIDIA, TYPE II; AN2106210
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HLA-B
ANKYLOSING SPONDYLITIS106300
  • PCR-Analyse
AT3
ANTITHROMBIN III DEFICIENCY107300
  • Sanger-Sequenzierung
TGFBR2
AORTIC ANEURYSM, FAMILIAL THORACIC 3608967
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MYH11
Aortic aneurysm, familial thoracic 4, AAT4132900
  • Sanger-Sequenzierung
ACTA2
Aortic aneurysm, familial thoracic 6, AAT6611788
  • Sanger-Sequenzierung
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7613780
  • Sanger-Sequenzierung
PRKG1
Aortic aneurysm, familial thoracic 8615436
  • Sanger-Sequenzierung
MFAP5
AORTIC ANEURYSM, FAMILIAL THORACIC 9616166
  • Sanger-Sequenzierung
FGFR1
FGFR2
FGFR3
APERT SYNDROME101200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ARG1
ARGININEMIA207800
  • Sanger-Sequenzierung
ASL
ARGININOSUCCINIC ACIDURIA207900
  • Sanger-Sequenzierung
AADC
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY608643
  • Sanger-Sequenzierung
TPM2
ARTHROGRYPOSIS, DISTAL, TYPE 1; DA1108120
  • Sanger-Sequenzierung
ATM
ATAXIA-TELANGIECTASIA; AT208900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
APTX
SETX
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH208920
  • Sanger-Sequenzierung
PTCH
PTCH2
SUFU
BASAL CELL NEVUS SYNDROME; BCNS109400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SLC20A2
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3614540
  • Sanger-Sequenzierung
PDGFRB
Basal ganglia calcification, idiopathic, 4615007
  • Sanger-Sequenzierung
PDGFB
Basal ganglia calcification, idiopathic, 5615483
  • Sanger-Sequenzierung
XPR1
Basal ganglia calcification, idiopathic, 6616413
  • Sanger-Sequenzierung
MYORG
Basal ganglia calcification, idiopathic, 7618317
  • Sanger-Sequenzierung
CDKN1C
ICR1
BECKWITH-WIEDEMANN SYNDROME; BWS130650
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
ATP2C1
BENIGN CHRONIC PEMPHIGUS169600
  • Sanger-Sequenzierung
NKX2-1
Benign hereditary chorea118700
  • Sanger-Sequenzierung
BSCL2
Berardinelli-Seip-congenital Lipodystrophy270685
  • Sanger-Sequenzierung
AGPAT2
CAV1
Berardinelli-Seip-congenital Lipodystrophy type 1 (BSCL1)608594
  • Sanger-Sequenzierung
BEST1
Bestrophinopathy611809
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CYP4V2
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY210370
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FLCN
BIRT-HOGG-DUBE SYNDROME135150
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES110100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PHF6
BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS301900
  • Sanger-Sequenzierung
PTHLH
Brachydactyly type E2613382
  • Sanger-Sequenzierung
IHH
BRACHYDACTYLY, TYPE A1; BDA1112500
  • Sanger-Sequenzierung
GDF5
BRACHYDACTYLY, TYPE C; BDC113100
  • Sanger-Sequenzierung
TRPV4
Brachyolmia Type 3113500
  • Sanger-Sequenzierung
RAD51D
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4614291
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
OX9
CAMPOMELIC DYSPLASIA114290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TGFB1
CAMURATI-ENGELMANN DISEASE131300
  • Sanger-Sequenzierung
CPS1
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO237300
  • Sanger-Sequenzierung
BRAF
KRAS
CARDIOFACIOCUTANEOUS SYNDROME115150
  • Sanger-Sequenzierung
TNNT2
Cardiomyopathy, dilated601494
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SDH2
Cardiomyopathy, dilated, 1GG613642
  • Sanger-Sequenzierung
PRKAR1A
CARNEY COMPLEX, TYPE 1; CNC1160980
  • Sanger-Sequenzierung
HLA-DQA1
HLA-DQB1
CELIAC DISEASE; CD212750
  • PCR-Analyse
CA8
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 3613227
  • Sanger-Sequenzierung
VLDLR
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1224050
  • Sanger-Sequenzierung
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL125310
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HTRA1
CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY600142
  • Sanger-Sequenzierung
ERCC2
ERCC5
ERCC6
CEREBROOCULOFACIOSKELETAL SYNDROME 1214150
  • Sanger-Sequenzierung
CLN6
Ceroid lipofuscinosis neuronal 4A (autosomal recessive)204300
  • Sanger-Sequenzierung
CLN6
Ceroid lipofuscinosis neuronal 6601780
  • Sanger-Sequenzierung
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1256730
  • Sanger-Sequenzierung
CLN2
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2204500
  • Sanger-Sequenzierung
DNM2
Charcot-Marie-Tooth disease (axonal, type 2M), Charcot-Marie-Tooth disease (dominant intermediate B)606482
  • Sanger-Sequenzierung
HSPB1
Charcot-Marie-Tooth disease (axonal) type 2F606595
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
AARS
Charcot-Marie-Tooth disease (axonal) type 2N613287
  • Sanger-Sequenzierung
FIG4
Charcot-Marie-Tooth disease type 4J611228
  • Sanger-Sequenzierung
MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2609260
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
GDAP1
Charcot-Marie-Tooth disease, axonal, type 2K607831
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HSPB8
Charcot-Marie-Tooth disease, axonal, type 2L608673
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
VCP
Charcot-Marie-tooth disease, axonal, type 2Y616687
  • Sanger-Sequenzierung
Cx32-GJB1
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B118200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LITAF
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C601098
  • Sanger-Sequenzierung
ECEL1
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D607678
  • Sanger-Sequenzierung
GDAP1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A214400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TRPV4
Charcot-Marie-Tooth Neuropathy Type 2C606071
  • Sanger-Sequenzierung
NEFL
Charlot-Marie-Tooth Disease Type 1F607734
  • Sanger-Sequenzierung
LYST
CHEDIAK-HIGASHI SYNDROME214500
  • Sanger-Sequenzierung
SH3BP2
CHERUBISM118400
  • Sanger-Sequenzierung
SAMHD1
TREX1
CHILBLAIN LUPUS; CHBL610448
  • Sanger-Sequenzierung
ABCB11
ATP8B1
Cholestasis, benign recurrent intrahepatic243300
  • Sanger-Sequenzierung
ABCB11
ABCB4
ATP8B1
Cholestasis, progressive familial intrahepatic211600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GDF5
CHONDRODYSPLASIA, GREBE TYPE200700
  • Sanger-Sequenzierung
VPS13A
Chorea-acanthocytosis200150
  • Sanger-Sequenzierung
NKX2-1
Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress610978
  • Sanger-Sequenzierung
CINCA SYNDROME; CINCA607115
  • Sanger-Sequenzierung
SLC25A13
CITRULLINEMIA TYPE II603471
  • Sanger-Sequenzierung
ASS
Citrullinemia, classic215700
  • Sanger-Sequenzierung
RUNX2
CLEIDOCRANIAL DYSPLASIA; CCD119600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
F2
COAGULATION FACTOR II; F2176930
  • Sanger-Sequenzierung
ERCC8
COCKAYNE SYNDROME TYPE A, ~B216400, 133540
  • Sanger-Sequenzierung
ERCC6
COCKAYNE SYNDROME, TYPE B133540
  • Sanger-Sequenzierung
RPS6KA3
COFFIN-LOWRY SYNDROME; CLS303600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COH1 (VPS13B)
Cohen Syndrome216550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MSH3
MUTYH
NTHL1
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE608456
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4; HNPCC4614337
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
POLE
Colorectal cancer, susceptibility to, 12615083
  • Sanger-Sequenzierung
POLD1
Colorectal cancer, susceptibiliyt to, 10612591
  • Sanger-Sequenzierung
KIF21A
PHOX2A
TUBB3
Congenital fibrosis of extraocular muscles type 1135700
  • Sanger-Sequenzierung
CONTRACTURAL ARACHNODACTYLY, CONGENITAL121050
  • Sanger-Sequenzierung
NIPBL
CORNELIA DE LANGE SYNDROME; CDLS122470
  • Sanger-Sequenzierung
LRP6
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2610947
  • Sanger-Sequenzierung
ARX
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA300004
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TUBB3
Cortical dysplasia, complex, with other brain malformations614039, 615412
  • Sanger-Sequenzierung
HRAS
Costello syndrome218040
  • Sanger-Sequenzierung
PRNP
CREUTZFELDT-JAKOB DISEASE; CJD123400
  • Sanger-Sequenzierung
FGFR1
FGFR2
FGFR3
CROUZON SYNDROME123500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HLXB9
CURRARINO SYNDROME 176450
  • Sanger-Sequenzierung
CFTR
CYSTIC FIBROSIS; CF219700
  • Sanger-Sequenzierung
UMOD
cystic kidney disease, autosomal dominant medullary, type 2603860
  • Sanger-Sequenzierung
ATP2A2
DARIER-WHITE DISEASE124400
  • Sanger-Sequenzierung
COL11A2
TECTA
DEAFNESS, AUTOSOMAL RECESSIVE600060, 601868, 609706
  • Sanger-Sequenzierung
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PRPS1
Deafness, X-linked 1304500
  • Sanger-Sequenzierung
POU3F4
Deafness, X-linked 2304400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SNCB
DEMENTIA, LEWY BODY127750
  • Sanger-Sequenzierung
HNF1B
PPARG
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM125853
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ABCC8
GCK
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL606176
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DIGEORGE SYNDROME; DGS188400
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DGS2
DIGEORGE SYNDROME/VELOCARDIOFACIAL SYNDROME SPECTRUM OF MALFORMATION 2601362
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DPYS
Dihydropyrimidinase deficiency222748
  • Sanger-Sequenzierung
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD274270
  • Sanger-Sequenzierung
SCN1A
DRAVET SYNDROME607208
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CYP2D6
DRUG METABOLISM, POOR, CYP2D6-RELATED608902
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GDF5
Du Pan Syndrome228900
  • Sanger-Sequenzierung
SALL4
DUANE-RADIAL RAY SYNDROME; DRRS607323
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATP1A3
DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP128235
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GCH1
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION128230
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SGCE
DYT11 (Myoclonic-dystonia syndrome)159900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
THAP1
DYT6602629
  • Sanger-Sequenzierung
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3604292
  • Sanger-Sequenzierung
CHST14
Ehlers-Danlos syndrome musculocontractural type601776
  • Sanger-Sequenzierung
COL1A1
COL5A1
COL5A2
EHLERS-DANLOS SYNDROME, TYPE I130000
  • Sanger-Sequenzierung
COL5A1
EHLERS-DANLOS SYNDROME, TYPE II130010
  • Sanger-Sequenzierung
COL3A1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT130050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
COL1A1
COL1A2
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT130060
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FHL1
Emery-Dreifuss muscular dystrophy type 6300696
  • Sanger-Sequenzierung
LMNA
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2181350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LMNA
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3604929
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ELOVL5
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD310300
  • Sanger-Sequenzierung
PCDH19
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR300088
  • Sanger-Sequenzierung
ARX
EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY300432
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CACNB4
Episodic ataxia type 5613855
  • Sanger-Sequenzierung
CACNA1A
KCNA1
SLC1A3
EPISODIC ATAXIA, TYPE 1; EA1160120
  • Sanger-Sequenzierung
EXT1
EXOSTOSES, MULTIPLE, TYPE I133700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
EXT2
EXOSTOSES, MULTIPLE, TYPE II133701
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FABRY DISEASE301500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
F5
FACTOR V DEFICIENCY227400
  • Sanger-Sequenzierung
F7
FACTOR VII DEFICIENCY227500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
F11
Factor XI deficiency (autosomal recessive and autosomal dominant)612416
  • Sanger-Sequenzierung
RAD51C
Familial Breast-Ovarian Cancer, Susceptibility to 3 (BRCA3)613399
  • Sanger-Sequenzierung
CIAS1
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; FCAS120100
  • Sanger-Sequenzierung
PCSK9
Familial Hypercholesterolemia 3, Autosomal Dominant603776
  • Sanger-Sequenzierung
MEFV
FAMILIAL MEDITERRANEAN FEVER; FMF249100
  • Sanger-Sequenzierung
PRNP
FATAL FAMILIAL INSOMNIA; FFI600072
  • Sanger-Sequenzierung
COL11A1
Fibrochondrogenesis 1228520
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL11A2
Fibrochondrogenesis 2614524
  • Sanger-Sequenzierung
PHOX2A
Fibrosis of extraocular muscles, congenital, 2602078
  • Sanger-Sequenzierung
POLE
FILS syndrome615139
  • Sanger-Sequenzierung
SRCAP
Floating-Harbor Syndrome (FHS)136140
  • Sanger-Sequenzierung
PORCN
FOCAL DERMAL HYPOPLASIA305600
  • Sanger-Sequenzierung
SH3PXD2B
Frank-ter Haar syndrome249420
  • Sanger-Sequenzierung
FRDA
FRIEDREICH ATAXIA 1; FRDA229300
  • Fragmentanalyse
GRN
MAPT
FRONTOTEMPORAL DEMENTIA600274, 615911
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CHMP2B
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED600795
  • Sanger-Sequenzierung
GRN
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLDU607485
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FRUCTOSE INTOLERANCE, HEREDITARY229600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FH
FUMARASE DEFICIENCY606812
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
GALT
GALACTOSEMIA230400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CDH1
GASTRIC CANCER137215
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SCN1A
SCN1B
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS604233
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PRNP
GERSTMANN-STRAUSSLER DISEASE; GSD137440
  • Sanger-Sequenzierung
GAN
GIANT AXONAL NEUROPATHY 1256850
  • Sanger-Sequenzierung
SATB2
Glass syndrome612313
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GLMN
Glomuvenous Malformations; GVM138000
  • Sanger-Sequenzierung
SLC2A1
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER138140
  • Sanger-Sequenzierung
AMT
GLDC
GLYCINE ENCEPHALOPATHY; GCE605899
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GBE1
GLYCOGEN STORAGE DISEASE IV232500
  • Sanger-Sequenzierung
PYGM
GLYCOGEN STORAGE DISEASE V232600
  • Sanger-Sequenzierung
PRPS1
Gout, PRPS-related300661
  • Sanger-Sequenzierung
GLI3
Greig cephalopolysyndactyly syndrome175700
  • Sanger-Sequenzierung
F12
HAGEMAN FACTOR DEFICIENCY234000
  • Sanger-Sequenzierung
SLC6A19
Hartnup-Krankheit234500
  • Sanger-Sequenzierung
HFE
HEMOCHROMATOSIS; HFE235200
  • Sanger-Sequenzierung
HBB
HEMOGLOBIN--BETA LOCUS; HBB141900
  • Sanger-Sequenzierung
HEMOPHILIA B; HEMB306900
  • Sanger-Sequenzierung
CCBE1
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME235510
  • Sanger-Sequenzierung
GDF2
Hereditary hemorrhagic Telangiectasia Typ 5615506
  • Sanger-Sequenzierung
GREM1
Hereditary mixed polyposis syndrome type 1 (HMPS1)601228
  • MLPA (Multiple Ligation-dependent Probe Amplification
SPTLC1
Hereditary Sensory Neuropathy Type 1162400,613708,615632,6136
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
EDN3
EDNRB
RET
HIRSCHSPRUNG DISEASE142623
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SALL4
TBX5
HOLT-ORAM SYNDROME; HOS142900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
  • Sanger-Sequenzierung
JPH3
HUNTINGTON DISEASE-LIKE 2; HDL2606438
  • Sanger-Sequenzierung
HD
HUNTINGTON DISEASE; HD143100
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
IDUA
Hurler Syndrome607014
  • Sanger-Sequenzierung
IDUA
HURLER-SCHEIE SYNDROME607015
  • Sanger-Sequenzierung
LMNA
hutchinson-gilford progeria176670
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
L1CAM
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS307000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MVK
HYPER-IgD SYNDROME; HIDS260920
  • Sanger-Sequenzierung
STAT3
Hyper-IgE recurrent infection syndrome, autosomal dominant147060
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CYP24A1
Hypercalcemia, infantile143880
  • Sanger-Sequenzierung
LDLR
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT143890, 603776
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
APOB
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B144010
  • Sanger-Sequenzierung
ARH
LDLRAP1
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH603813
  • Sanger-Sequenzierung
FTL
HYPERFERRITINEMIA-CATARACT SYNDROME600886
  • Sanger-Sequenzierung
KCNJ11
Hyperinsulinemic hypoglycemia, familial, 2601820
  • Sanger-Sequenzierung
HADH
Hyperinsulinemic hypoglycemia, familial, 4609975
  • Sanger-Sequenzierung
GCK
GLUD1
Hyperinsulinemic hypoglycemia, familial, type 3602485
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ABCC8
KCNJ11
Hyperinsulinemic hypoglycemia, familial,1; HHF1256450
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SCN4A
HYPERKALEMIC PERIODIC PARALYSIS; HYPP170500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SLC25A15
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome238970
  • Sanger-Sequenzierung
PRODH
Hyperprolinemia, type I239500
  • Sanger-Sequenzierung
ALDH4A1
HYPERPROLINEMIA, TYPE II239510
  • Sanger-Sequenzierung
FGFR3
HYPOCHONDROPLASIA; HCH146000
  • Sanger-Sequenzierung
SCN4A
Hypokalemic periodic paralysis, type 2613345
  • Sanger-Sequenzierung
CACNA1S
HYPOKALEMIC PERIODIC PARALYSIS; HOKPP170400
  • Sanger-Sequenzierung
LCT
HYPOLACTASIA, ADULT TYPE223100
  • Sanger-Sequenzierung
ALPL
Hypophosphatasia (infantile, childhood, adult)241500, 241510, 146300
  • Sanger-Sequenzierung
TPO
Hypothyreosis, congenital274500, 218700, 274700
  • Sanger-Sequenzierung
TRHR
Hypothyroidism, congenital, nongoitrous, 7618573
  • Sanger-Sequenzierung
HPRT1
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1308000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ICOS
Immunodeficiency, common variable type 1607594
  • Sanger-Sequenzierung
TNFRSF13B
IMMUNODEFICIENCY, COMMON VARIABLE, 2240500
  • Sanger-Sequenzierung
TNFRSF13B
IMMUNOGLOBULIN A DEFICIENCY 2609529
  • Sanger-Sequenzierung
IKBKG
INCONTINENTIA PIGMENTI; IP308300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ARX
CDKL5
INFANTILE SPASM SYNDROME, X-LINKED308350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
COL9A2
COL9A3
INTERVERTEBRAL DISC DISEASE603932
  • Sanger-Sequenzierung
TMPRSS6
Iron-refractory iron deficiency anemia206200
  • Sanger-Sequenzierung
JACOBSEN SYNDROME147791
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
KCNE1
KCNQ1
JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1220400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
BMPR1A
MADH4
Juvenile Polyposis / Hereditary Hemorrhagic Telangiectasia Syndrome175050, 615506, 174900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FGFR1
KALLMANN SYNDROME 1; KAL1308700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
EHMT1
KLEEFSTRA SYNDROME610253
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GDF6
Klippel-Feil syndrome 1 (autosomal dominant)118100
  • Sanger-Sequenzierung
MEOX1
Klippel-Feil syndrome 2214300
  • Sanger-Sequenzierung
GDF3
Klippel-Feil syndrome 3613702
  • Sanger-Sequenzierung
AGGF1
KLIPPEL-TRENAUNAY-WEBER SYNDROME149000
  • Sanger-Sequenzierung
COL2A1
KNIEST DYSPLASIA156550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LCT
LACTASE DEFICIENCY, CONGENITAL223000
  • Sanger-Sequenzierung
EXT1
TRPS1
LANGER-GIEDION SYNDROME; LGS150230
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SPRED1
LEGIUS SYNDROME611431
  • Sanger-Sequenzierung
BRAF
PTPN11
RAF1
LEOPARD SYNDROME151100
  • Sanger-Sequenzierung
SHOX
LERI-WEILL DYSCHONDROSTEOSIS; LWD127300
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PAX5
Leukemia, acute lymphoblastic, susceptibility to, 3615545
  • Sanger-Sequenzierung
EIF2B2
EIF2B5
Leukoencephalopathy with vanishing white matter603896
  • Sanger-Sequenzierung
CHECK2
p53
LI-FRAUMENI SYNDROME 1; LFS1151623
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CIDEC
Lipodystrophy (partial familial) Typ 5615238
  • Sanger-Sequenzierung
PPARG
Lipodystrophy, familial partial, type 3604367
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PLIN1
Lipodystrophy, familial partial, type 4613877
  • Sanger-Sequenzierung
LMNB2
Lipodystrophy, partial, acquired, susceptibility to608709
  • Sanger-Sequenzierung
LIS 1
TUBA1A
LISSENCEPHALY I; LIS1607432
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ARX
DCX
LISSENCEPHALY, X-LINKED300067
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ARX
LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG300215
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LONG QT SYNDROME 1; LQT1192500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CALM3
Long QT syndrome 16618782
  • Sanger-Sequenzierung
SCN5A
LONG QT SYNDROME 3; LQT3603830
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LOWE OCULOCEREBRORENAL SYNDROME; OCRL309000
  • Sanger-Sequenzierung
ATXN3
MACHADO-JOSEPH DISEASE; MJD109150
  • Triplett-Repeat-Expansion
RNF135
MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME614192
  • Sanger-Sequenzierung
CFH
LOC387715
MACULAR DEGENERATION, AGE-RELATED610698
  • Sanger-Sequenzierung
BEST1
PRPH2
MACULAR DYSTROPHY, VITELLIFORM; VMD153700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
POLD1
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381
  • Sanger-Sequenzierung
LMNA
mandibulosacral dysplasia type A Lipodystrophy248370
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TGFBR1
TGFBR2
Marfan syndrome type II154705
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SIL1
Marinesco-Sjogren Syndrome248800
  • Sanger-Sequenzierung
COL11A1
MARSHALL SYNDROME154780
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
L1CAM
MASA SYNDROME303350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HNF1B
Maturity Onset Diabetes of the Young Type V137920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HNF4A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1125850
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
GCK
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2125851
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3600496
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
IPF1
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4606392
  • Sanger-Sequenzierung
HNF1B
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5604284
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
XK
McLeod disease314850
  • Sanger-Sequenzierung
SUFU
Medulloblastoma, desmoplastic155255
  • Sanger-Sequenzierung
CDK4
CDKN2A
MELANOMA-PANCREATIC CANCER SYNDROME606719
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CDK4
CDKN2A
MELANOMA, CUTANEOUS MALIGNANT; CMM155600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HTR1A
menstrual cycle-dependent periodic fever614674
  • Sanger-Sequenzierung
MECP2
MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM300055
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ARSA
PSAP
METACHROMATIC LEUKODYSTROPHY250100
  • Sanger-Sequenzierung
PTH1R
Metaphyseal chondrodysplasia, Murk Jansen type156400
  • Sanger-Sequenzierung
CYB5R3
Methemoglobinemia type I and II250800
  • Sanger-Sequenzierung
CYB5A
Methemoglobinemia type IV250790
  • Sanger-Sequenzierung
MAT1A
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY250850
  • Sanger-Sequenzierung
TUBGCP6
Microcephaly and chorioretinopathy with or without mental retardation251270
  • Sanger-Sequenzierung
KIF11
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950
  • Sanger-Sequenzierung
SOX2
MICROPHTHALMIA, SYNDROMIC 3206900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATP1A2
CACNA1A
SCN1A
MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1141500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATP1A2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2602481
  • Sanger-Sequenzierung
SCN1A
Migraine, familial hemiplegic, 3609634
  • Sanger-Sequenzierung
LIS 1
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SDH2
MITOCHONDRIAL COMPLEX II DEFICIENCE252011
  • Sanger-Sequenzierung
SUCLA2
SUCLG1
Mitochondrial DNA depletion syndrome, myopathic form609560
  • Sanger-Sequenzierung
ECGF1
POLG
Mitochondriales neurogastrointestinales Encephalopathie-Syndrom603041
  • Sanger-Sequenzierung
ANO5
MIYOSHI MUSCULAR DYSTROPHY 3613319
  • Sanger-Sequenzierung
CIAS1
MUCKLE-WELLS SYNDROME191900
  • Sanger-Sequenzierung
NAGLU
Mucopolysaccharidosis 3B252920
  • Sanger-Sequenzierung
HGSNAT
Mucopolysaccharidosis 3C252930
  • Sanger-Sequenzierung
GNS
Mucopolysaccharidosis 3D252940
  • Sanger-Sequenzierung
FH
Multiple cutaneous and uterine myomata 1150800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CDKN1B
MULTIPLE ENDOCRINE NEOPLASIA TYPE IV610755
  • Sanger-Sequenzierung
MEN1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1131100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2A171400
  • Sanger-Sequenzierung
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B162300
  • Sanger-Sequenzierung
SNCA
MULTIPLE SYSTEM ATROPHY146500
  • Sanger-Sequenzierung
DMD
MUSCULAR DYSTROPHY, BECKER TYPE; BMD300376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FKRP
MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C606612
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
LMNA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B159001
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CAV3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C607801
  • Sanger-Sequenzierung
CAPN3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A253600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DYSF
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B253601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I607155
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ANO5
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L611307
  • Sanger-Sequenzierung
NOTCH3
Myofibromatosis, infantile 2615293
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PDGFRB
Myofibromatosis, infantile, 1228550
  • Sanger-Sequenzierung
DNM2
Myopathy Centronuclear (Autosomal dominant)160150
  • Sanger-Sequenzierung
CLCN1
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT160800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CLCN1
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE255700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SCN4A
Myotonia, potassium-aggravated608390
  • Sanger-Sequenzierung
MYOTUBULAR MYOPATHY 1; MTM1310400
  • Sanger-Sequenzierung
PRKAR1A
Myxoma, intracardiac255960
  • Sanger-Sequenzierung
NAGS
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY237310
  • Sanger-Sequenzierung
LMX1B
NAIL-PATELLA SYNDROME; NPS161200
  • Sanger-Sequenzierung
HCRT
HLA-DQB1
TRAC
NARCOLEPSY 1; NRCLP1161400
  • Sanger-Sequenzierung
MOG
NARCOLEPSY 7614250
  • Sanger-Sequenzierung
SPRED1
NEUROFIBROMATOSIS, TYPE I; NF1162200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
NF2
NEUROFIBROMATOSIS, TYPE II; NF2101000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
REEP1
Neuronopathy, distal hereditary motor, type VB614751
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
RAB7
Neuropathy (Charlot-Marie-Tooth) Type 2B600882
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
GARS
Neuropathy (Charlot-Marie-Tooth) Type 2D601472
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PRPS1
Neuropathy (Charlot-Marie-Tooth) Type X5311070
  • Sanger-Sequenzierung
ATP6
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA551500
  • Sanger-Sequenzierung
HSPB8
Neuropathy, distal hereditary motor, type IIA158590
  • Sanger-Sequenzierung
HSPB1
Neuropathy, distal hereditary motor, type IIB608634
  • Sanger-Sequenzierung
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SMPD1
NIEMANN-PICK DISEASE, TYPE A257200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SMPD1
NIEMANN-PICK DISEASE, TYPE B607616
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NPC1
NPC2
NIEMANN-PICK DISEASE, TYPE C1; NPC1257220
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
NPC2
NIEMANN-PICK DISEASE, TYPE C2; NPC2607625
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NBN
NIJMEGEN BREAKAGE SYNDROME251260
  • Sanger-Sequenzierung
SHOC2
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR607721
  • Sanger-Sequenzierung
CBL
Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia613563
  • Sanger-Sequenzierung
SLC45A2
OCULOCUTANEOUS ALBINISM TYPE IV606574
  • Sanger-Sequenzierung
OCA2
SLC45A2
TYR
OCULOCUTANEOUS ALBINISM, TYPE I; OCA1203100
  • Sanger-Sequenzierung
PABN1
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD164300
  • Sanger-Sequenzierung
TMEM126A
OPTIC ATROPHY 7612989
  • Sanger-Sequenzierung
OPA1
TMEM126A
Optic Atrophy Type Kjer165500
  • Sanger-Sequenzierung
OTC
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO311250
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MSX1
OROFACIAL CLEFT 5; OFC5608874
  • Sanger-Sequenzierung
CXORF5
Orofaciodigital syndrome I311200
  • Sanger-Sequenzierung
ACVRL1
OSLER-RENDU-WEBER SYNDROME 2; ORW2600376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FKBP10
Osteogenesis imperfecta type VI610968
  • Sanger-Sequenzierung
COL1A1
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE I166200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
COL11A2
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA; OSMED215150
  • Sanger-Sequenzierung
BMP15
OVARIAN DYSGENESIS 1; ODG1233300
  • Sanger-Sequenzierung
SQSTM1
Paget disease of bone602080
  • Sanger-Sequenzierung
PALLD
PANCREATIC CANCER, SUSCEPTIBILITY TO, 1606856
  • Sanger-Sequenzierung
BRCA2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2613347
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PALB2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 3613348
  • Sanger-Sequenzierung
PANK2
PLA2G6
WDR45
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN234200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SDHD
PARAGANGLIOMAS 1; PGL1168000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SDH5
Paragangliomas 2601650
  • Sanger-Sequenzierung
SDHC
PARAGANGLIOMAS 3; PGL3605373
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SDH2
Paragangliomas 5614165
  • Sanger-Sequenzierung
SCN4A
Paramyotonia congenita of von Eulenburg168300
  • Sanger-Sequenzierung
PGN
PARAPLEGIN; SPG7607259
  • Sanger-Sequenzierung
PINK1
POLG
PARKINSON DISEASE556500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PLA2G6
Parkinson disease 14612953
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SCN9A
Paroxysmal extreme pain disorder, allelic: insensitivity to pain, allelic: primary erythermalgia167400, 243000, 133020, 6
  • Sanger-Sequenzierung
PRRT2
Paroxysmal kinesigenic dyskinesia128200
  • Sanger-Sequenzierung
ARX
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS309510
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TNFRSF1A
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT142680
  • Sanger-Sequenzierung
STK11
PEUTZ-JEGHERS SYNDROME; PJS175200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FGFR1
FGFR2
FGFR3
PFEIFFER SYNDROME101600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PAH
PHENYLKETONURIA261600
  • Sanger-Sequenzierung
PRKAR1A
Pigmented nodular adrenocortical disease, primary, 1610489
  • Sanger-Sequenzierung
GANAB
polycystic kidney and/or polycystic liver disease-3600666
  • Sanger-Sequenzierung
PKD2
POLYCYSTIC KIDNEY DISEASE173910, 173900, 263200, 6
  • Sanger-Sequenzierung
PKD1
POLYCYSTIC KIDNEY DISEASE 1; PKD1601313
  • Sanger-Sequenzierung
PRKCSH
SEC63
POLYCYSTIC LIVER DISEASE174050
  • Sanger-Sequenzierung
BMPR1A
MADH4
POLYPOSIS, JUVENILE INTESTINAL174900, 132600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TSEN2
TSEN34
TSEN54
PONTOCEREBELLAR HYPOPLASIA TYPE 2A277470
  • Sanger-Sequenzierung
IRF6
POPLITEAL PTERYGIUM SYNDROME; PPS119500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
COL4A1
COL4A2
Porencephaly, familal175780
  • Sanger-Sequenzierung
Porphyria cutanea tarda176100
  • Sanger-Sequenzierung
PORPHYRIA, ACUTE INTERMITTENT176000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
KCNE1
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1176261
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
KCNE2
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2; KCNE2613693
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
KCNH2
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2152427
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
RAI1
POTOCKI-LUPSKI SYNDROME610883
  • MLPA (Multiple Ligation-dependent Probe Amplification
FOXL2
NR5A1
Premature Ovarian Failure POF311360
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PSEN2
PRESENILIN 2; PSEN2600759
  • Sanger-Sequenzierung
ALS2
PRIMARY LATERAL SCLEROSIS, JUVENILE; PLSJ606353
  • Sanger-Sequenzierung
progeria, atypical150330
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
POLG2
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4610131
  • Sanger-Sequenzierung
PI
PROTEASE INHIBITOR 1; PI107400
  • Sanger-Sequenzierung
PROC
PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO176860
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PROS1
PROTEIN S, ALPHA; PROS1176880
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ALAS2
Protoporphyria, erythropoietic, X-linked300752
  • Sanger-Sequenzierung
GNAS
Pseudohypoparathyroidism, Type IB603233
  • Sanger-Sequenzierung
PSTPIP1
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne604416
  • Sanger-Sequenzierung
PKLR
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE266200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FAM20C
Raine syndrome259775
  • Sanger-Sequenzierung
MET
RENAL CELL CARCINOMA, PAPILLARY605074
  • Sanger-Sequenzierung
HNF1B
renal cysts and Diabetes syndromes/HNF1beta-associated diseases189907
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
BTBD9
Restless Legs Syndrome 6611185
  • Sanger-Sequenzierung
PDE6H
RETINAL CONE DYSTROPHY 3A610024
  • Sanger-Sequenzierung
KCNV2
Retinal cone dystrophy 3B610356
  • Sanger-Sequenzierung
RETINOBLASTOMA; RB1180200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
RS1
RETINOSCHISIS 1, X-LINKED, JUVENILE; RS1312700
  • Sanger-Sequenzierung
CDKL5
FOXG1
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
FOXC1
PITX2
RIEGER SYNDROME, TYPE 1180500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
WNT5A
Robinow syndrome (autosomal dominant)180700
  • Sanger-Sequenzierung
FGFR1
FGFR2
TWIST1
SAETHRE-CHOTZEN SYNDROME; SCS101400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ITPR1
SCA15606658
  • Sanger-Sequenzierung
IDUA
Scheie syndrome607016
  • Sanger-Sequenzierung
POLG
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO607459
  • Sanger-Sequenzierung
SPR
Sepiapterin Reductase Deficiency182125
  • Sanger-Sequenzierung
RNF43
Sessile serrated polyposis cancer syndrome617108
  • Sanger-Sequenzierung
NR5A1
SRY
SEX-DETERMINING REGION Y; SRY480000
  • Sanger-Sequenzierung
KCNH2
SHORT QT SYNDROME 1609620, 609621, 609622
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
KCNQ1
SHORT QT SYNDROME 2609621
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
KCNJ2
SHORT QT SYNDROME 3609622
  • Sanger-Sequenzierung
SKI
Shprintzen-Goldberg syndrome182212
  • Sanger-Sequenzierung
HCN4
SCN5A
Sick Sinus Syndrome608567
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HBB
SICKLE CELL ANEMIA603903
  • Sanger-Sequenzierung
IGF2
Silver-Russell syndrome 3 616489
  • Sanger-Sequenzierung
DHCR7
SMITH-LEMLI-OPITZ SYNDROME; SLOS270400
  • Sanger-Sequenzierung
RAI1
SMITH-MAGENIS SYNDROME; SMS182290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
NSD1
SOTOS SYNDROME117550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SACS
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE270550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ALS2
Spastic Paralysis, infantile-onset, IAHSP607225
  • Sanger-Sequenzierung
NIPA1
Spastic Paraplagia 6 (SPG6)600363
  • Sanger-Sequenzierung
KIF5A
Spastic Paraplegia 10604187
  • Sanger-Sequenzierung
KIAA1840
Spastic Paraplegia 11604360
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ZFYVE26
Spastic Paraplegia 15 (SPG15)270700
  • Sanger-Sequenzierung
SPG20
Spastic paraplegia 20, autosomal recessive275900
  • Sanger-Sequenzierung
ATL1
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A182600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
REEP1
Spastic Paraplegia 31610250
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PLPA6
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE612020
  • Sanger-Sequenzierung
SPAST
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4182601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
Spastic paraplegia 79, autosomal recessive615491
KIAA0196
Spastic Paraplegia 8 (SPG8)603563
  • Sanger-Sequenzierung
CYP7B1
SPG5270800
  • Sanger-Sequenzierung
ANK1
Spherocytosis, Type 1182900
  • Sanger-Sequenzierung
AR
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1313200
  • Triplett-Repeat-Expansion
VABP
SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT182980
  • Sanger-Sequenzierung
BIRC1
SMN1
SMN2
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1253300
  • MLPA (Multiple Ligation-dependent Probe Amplification
BIRC1
SMN1
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2253550
  • MLPA (Multiple Ligation-dependent Probe Amplification
BIRC1
SMN1
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3253400
  • MLPA (Multiple Ligation-dependent Probe Amplification
TTBK2
Spinocerebellar Ataxia 11604432
  • Sanger-Sequenzierung
PPP2R2B
SPINOCEREBELLAR ATAXIA 12; SCA12604326
  • Triplett-Repeat-Expansion
TBP
SPINOCEREBELLAR ATAXIA 17; SCA17607136
  • Sanger-Sequenzierung
ATXN2
SPINOCEREBELLAR ATAXIA 2; SCA2183090
  • Triplett-Repeat-Expansion
PDYN
SPINOCEREBELLAR ATAXIA 23610245
  • Sanger-Sequenzierung
AFG3L2
SPINOCEREBELLAR ATAXIA 28610246
  • Sanger-Sequenzierung
CACNA1A
SPINOCEREBELLAR ATAXIA 6; SCA6183086
  • Triplett-Repeat-Expansion
ATXN7
SPINOCEREBELLAR ATAXIA 7; SCA7164500
  • Triplett-Repeat-Expansion
ATXN8OS
Spinocerebellar ataxia 8608768
  • Triplett-Repeat-Expansion
SETX
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1606002
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATXN1
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1164400
  • Triplett-Repeat-Expansion
TP63
SPLIT-HAND/FOOT MALFORMATION 4; SHFM4605289
  • Sanger-Sequenzierung
MESP2
Spondylocostal dysostosis autosomal recessive 2608681
  • Sanger-Sequenzierung
DLL3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1277300
  • Sanger-Sequenzierung
COL2A1
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC183900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TRAPPC2
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA313400
  • Sanger-Sequenzierung
TRPV4
Spondylometaphyseal Dysplasia, Kozlowski Type184252
  • Sanger-Sequenzierung
ABCA4
STARGARDT DISEASE 1; STGD1248200
  • Sanger-Sequenzierung
SLCO1B1
Statin-Induced Myopathy237450
  • Sanger-Sequenzierung
COL11A1
STICKLER SYNDROME, TYPE II; STL2604841
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL11A2
STICKLER SYNDROME, TYPE III; STL3184840
  • Sanger-Sequenzierung
SDHB
SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB185470
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HOXD13
SYNDACTYLY, TYPE II186000
  • Sanger-Sequenzierung
HEXA
TAY-SACHS DISEASE; TSD272800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ENG
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT187300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
C12orf57
Temtamy Syndrome; TEMTYS218340
  • Sanger-Sequenzierung
FGFR3
Thanatophoric dysplasia, type II187601
  • Sanger-Sequenzierung
FGFR3
THANATOPHORIC DYSPLASIA; TD187600
  • Sanger-Sequenzierung
RET
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC155240
  • Sanger-Sequenzierung
THRB
THYROID HORMONE RESISTANCE188570
  • Sanger-Sequenzierung
TSHR
THYROID-STIMULATING HORMONE RECEPTOR; TSHR603372
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CACNA1S
KCNJ18
Thyrotoxic periodic paralysis188580, 613239
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MITF
Tietz syndrome103500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CACNA1C
Timothy syndrome601005
  • Sanger-Sequenzierung
MSX1
PAX9
TOOTH AGENESIS, SELECTIVE604625,100600
  • Sanger-Sequenzierung
DYT1
TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1128100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SALL1
TOWNES-BROCKS SYNDROME; TBS107480
  • Sanger-Sequenzierung
TCN2
Transcobalamin II deficiency275350
  • Sanger-Sequenzierung
TTR
TRANSTHYRETIN; TTR176300
  • Sanger-Sequenzierung
POLR1D
TREACHER COLLINS SYNDROME 2613717
  • Sanger-Sequenzierung
POLR1C
TREACHER COLLINS SYNDROME 3248390
  • Sanger-Sequenzierung
TCOF1
TREACHER COLLINS-FRANCESCHETTI SYNDROME; TCOF154500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TRPS1
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1190350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ERCC2
Trichothiodystrophy, photosensitive601675
  • Sanger-Sequenzierung
HADHA
Trifunctional protein deficiency609015
  • Sanger-Sequenzierung
TSC2
TSC2 GENE; TSC2191092
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TSC1
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TYK2
TYROSINE KINASE 2 DEFICIENCY611521
  • Sanger-Sequenzierung
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180
  • Deletionsscreening
TREX1
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY192315
  • Sanger-Sequenzierung
TECRL
Ventricular tachycardia, catecholaminergic polymorphic, 3614021
  • Sanger-Sequenzierung
BEST1
Vitelliform macular dystrophy, adult-onset608161
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
BEST1
Vitreoretinochoroidopathy and Microcornea, rod-cone dystrophy, cataract and posterior staphyloma193220
  • Sanger-Sequenzierung
VHL
VON HIPPEL-LINDAU SYNDROME; VHL193300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
EDN3
EDNRB
SOX10
Waardenburg syndrome type 4613266
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SNAI2
Waardenburg syndrome, type 2D608890
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PAX3
WAARDENBURG SYNDROME, TYPE I; WS1193500
  • Sanger-Sequenzierung
MITF
WAARDENBURG SYNDROME, TYPE IIA; WS2A193510
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
PAX3
WAARDENBURG SYNDROME, TYPE III; WS3148820
  • Sanger-Sequenzierung
MITF
TYR
Waardenburg syndrome/ocular albinism (digenic)103470
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
AN2
WT1
WAGR SYNDROME194072
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
EZH2
Weaver syndrome277590
  • Sanger-Sequenzierung
RECQL2
WERNER SYNDROME; WRN277700
  • Sanger-Sequenzierung
WILLIAMS-BEUREN SYNDROME; WBS194050
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATP7B
WILSON DISEASE277900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MSX1
WITKOP SYNDROME189500
  • Sanger-Sequenzierung
MECP2
X-linked mental retardation with progressive spasticity300279
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ERCC2
Xeroderma pigmentosum, group D278730
  • Sanger-Sequenzierung
ERCC5
Xeroderma pigmentosum, group G278780
  • Sanger-Sequenzierung

Panels

Gen Name Kategorie Schlagworte/Indikation
APC
BMPR1A
MADH4
MUTYH
POLD1
... (6)
Imported from Diagnostics
ANG
C9ORF72
FIG4
FUS
SOD1
... (8)
Imported from Diagnostics
KCNE2
KCNJ2
KCNQ1
LMNA
SCN5A
Imported from Diagnostics
PIK3CA
PTEN
SDHB
SDHC
SDHD
Imported from Diagnostics
CACNA1C
CACNB2
GPD1L
HCN4
KCND3
... (9)
Imported from Diagnostics
LMNA
MYBPC3
MYH7
TNNI3
TNNT2
... (6)
Imported from Diagnostics
CAV3
MYBPC3
MYH7
MYL2
MYL3
... (8)
Imported from Diagnostics
Cx32-GJB1
ECEL1
GARS
MPZ
PMP22
Imported from Diagnostics
Cx32-GJB1
ECEL1
MPZ
PMP22
Imported from Diagnostics
MLH1
MSH2
MSH6
MSI
PIK3CA
... (10)
Imported from Diagnostics
PIK3CA
PTEN
SDHB
SDHC
SDHD
Imported from Diagnostics
COL11A2
GJB2
GJB3
GJB6
TECTA
Imported from Diagnostics
Cx32-GJB1
ECEL1
MPZ
PMP22
Imported from Diagnostics
FGFR1
GNRH1
GNRHR
KISS1R
Imported from Diagnostics
ATP6
MT-ND1
MT-ND4
MT-ND5
MT-ND6
... (6)
Imported from Diagnostics
ATP6
MT-ND5
MT-ND6
SDH2
Imported from Diagnostics
CAV1
CIDEC
LMNA
PLIN1
PPARG
Imported from Diagnostics
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2
Imported from Diagnostics
CACNA1C
CAV3
KCNE1
KCNE2
KCNH2
... (8)
Imported from Diagnostics
ATM
BRCA1
BRCA2
CDH1
CHECK2
... (11)
Imported from Diagnostics
ACTA2
FBN1
MYH11
MYLK
SMAD3
... (8)
Imported from Diagnostics
MT-CYB
MT-ND1
MT-ND5
MT-ND6
MT-TH
... (8)
Imported from Diagnostics
MT-ND5
MT-TH
MT-TK
MT-TL1
MT-TS2
Imported from Diagnostics
AARS
BSCL2
DNM2
ECEL1
FIG4
... (20)
Imported from Diagnostics
BRAF
CBL
KRAS
NRAS
PTPN11
... (9)
Imported from Diagnostics
LEP
LEPR
MC4R
POMC
SIM1
Imported from Diagnostics
BRCA1
BRCA2
PALB2
PALLD
Imported from Diagnostics
CFTR
CTRC
PRSS1
SPINK
Imported from Diagnostics
DJ1
LRRK2
PARK2
PINK1
SNCA
... (6)
Imported from Diagnostics
MAX
RET
SDHB
SDHC
SDHD
... (7)
Imported from Diagnostics
F2
F5
MTHFR
PROS1
Imported from Diagnostics
ANT1
C10ORF2
POLG
RRM2B
Imported from Diagnostics
COL11A1
COL11A2
COL2A1
COL9A2
Imported from Diagnostics
AXIN2
MSX1
PAX9
WNT10A
Imported from Diagnostics
GRHL3
IRF6
MSX1
PAX9
WNT10A
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2020
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
---
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2019
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
GenQA / UK NEQAS
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2018
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2018
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
RfB
53127 Bonn
Deutschland
2017
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
RfB
53127 Bonn
Deutschland
2015
  • molecular genetics
RfB
53127 Bonn
Deutschland
2015
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2015
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2015
  • molecular genetics
RfB
53127 Bonn
Deutschland
2015
  • molecular genetics
RfB
53127 Bonn
Deutschland
2015
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2015
  • molecular genetics
RfB
53127 Bonn
Deutschland
2015
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2015
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2015
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2015