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
nicht verifiziert
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
nicht verifiziert
Statin-Induced Myopathy
237450
  • 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
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
ANG
C9ORF72
FIG4
FUS
SOD1
... (8)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
KCNE2
KCNJ2
KCNQ1
LMNA
SCN5A
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
PIK3CA
PTEN
SDHB
SDHC
SDHD
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
CACNA1C
CACNB2
GPD1L
HCN4
KCND3
... (9)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
LMNA
MYBPC3
MYH7
TNNI3
TNNT2
... (6)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
CAV3
MYBPC3
MYH7
MYL2
MYL3
... (8)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
Cx32-GJB1
ECEL1
GARS
MPZ
PMP22
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
Cx32-GJB1
ECEL1
MPZ
PMP22
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
MLH1
MSH2
MSH6
MSI
PIK3CA
... (10)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
PIK3CA
PTEN
SDHB
SDHC
SDHD
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
COL11A2
GJB2
GJB3
GJB6
TECTA
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
Cx32-GJB1
ECEL1
MPZ
PMP22
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
FGFR1
GNRH1
GNRHR
KISS1R
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
ATP6
MT-ND1
MT-ND4
MT-ND5
MT-ND6
... (6)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ATP6
MT-ND5
MT-ND6
SDH2
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
CAV1
CIDEC
LMNA
PLIN1
PPARG
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
CACNA1C
CAV3
KCNE1
KCNE2
KCNH2
... (8)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
ATM
BRCA1
BRCA2
CDH1
CHECK2
... (11)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • NGS
Größe
keine Angaben
ACTA2
FBN1
MYH11
MYLK
SMAD3
... (8)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
MT-CYB
MT-ND1
MT-ND5
MT-ND6
MT-TH
... (8)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
MT-ND5
MT-TH
MT-TK
MT-TL1
MT-TS2
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
AARS
BSCL2
DNM2
ECEL1
FIG4
... (20)
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • NGS
Größe
keine Angaben
BRAF
CBL
KRAS
NRAS
PTPN11
... (9)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
LEP
LEPR
MC4R
POMC
SIM1
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
BRCA1
BRCA2
PALB2
PALLD
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
CFTR
CTRC
PRSS1
SPINK
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
DJ1
LRRK2
PARK2
PINK1
SNCA
... (6)
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
MAX
RET
SDHB
SDHC
SDHD
... (7)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
F2
F5
MTHFR
PROS1
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ANT1
C10ORF2
POLG
RRM2B
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
COL11A1
COL11A2
COL2A1
COL9A2
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
AXIN2
MSX1
PAX9
WNT10A
Imported from Diagnostics
Spezifikation
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
GRHL3
IRF6
MSX1
PAX9
WNT10A
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben

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---
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