Einrichtung

MVZ Dortmund Dr. Eberhard & Partner

Humangenetik
Brauhausstr. 4
44137 Dortmund
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Dr. med. Annemarie Schwan

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 02.05.2005
Akkreditierende Organisation: Deutsche Akkreditierungsstelle Chemie GmbH (DACH)
Beschreibung: Kompetenz nach DIN ISO 15189 mit DAR-Registriernummer DAC-ML-0221-03-00 zur Ausführung von Untersuchungen in den Gebieten Klinische Chemie (inkl. Hämatologie, Hämostaseologie), Immunologie, Mikrobiologie, Virologie, Humangenetik und Krankenhaushygiene. Hierin enthalten sind unter Anderem Hybridisierungsverfahren, Amplifikationsverfahren, Chromosomenanalyse und Elektrophorese zur Diagnostik aus verschiedenen Untersuchungsmaterialien inkl. peripheres Blut, Chorionzotten, Fruchtwasser, periphere Stammzellen, Biopsien, Abortgewebe,Speichel, Knochenmark, Nabelschurblut, Abstriche.
Datum der letzten Reakkreditierung: 08.07.2019
Reakkreditiert von: DAkkS

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Tumorzytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
HSD17B10
17-beta-hydroxysteroid dehydrogenase X deficiency300438
  • Sanger-Sequenzierung
HMGCL
3-hydroxy-3-methylglutaric aciduria246450
  • Sanger-Sequenzierung
CP
ACERULOPLASMINEMIA604290
  • Sanger-Sequenzierung
ACHONDROGENESIS, TYPE 1B; ACG1B600972
  • Sanger-Sequenzierung
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
SLC39A4
Acrodermatitis enteropathica, Zinc-deficiency type201100
  • Sanger-Sequenzierung
NPR2
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE602875
  • Sanger-Sequenzierung
PML
RARA
ACUTE PROMYELOCYTIC LEUKEMIA, INDUCER OF; PML102578
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
  • quantitative PCR (realtime PCR)
ACADM
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF201450
  • Sanger-Sequenzierung
  • PCR-Analyse
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY202010
  • Sanger-Sequenzierung
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY202110
  • Sanger-Sequenzierung
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
ABCD1
ADRENOLEUKODYSTROPHY; ALD300100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ACAT1
ALPHA-METHYLACETOACETIC ACIDURIA203750
  • Sanger-Sequenzierung
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX301040
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PSEN1
ALZHEIMER DISEASE, FAMILIAL, TYPE 3; AD3607822
  • Sanger-Sequenzierung
APP
ALZHEIMER DISEASE; AD104300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KCNJ2
ANDERSEN-TAWIL SYNDROME170390
  • Sanger-Sequenzierung
GABR3
MECP2
SNRPN
ANGELMAN SYNDROME; AS105830
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse
  • Deletionsscreening
C1NH
ANGIOEDEMA, HEREDITARY; HAE106100
  • Sanger-Sequenzierung
AN2
ANIRIDIA, TYPE II; AN2106210
  • Sanger-Sequenzierung
AT3
ANTITHROMBIN III DEFICIENCY107300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APERT SYNDROME101200
  • Sanger-Sequenzierung
APOE
APOLIPOPROTEIN E; APOE107741
  • PCR-Analyse
DES
LMNA
TMEM43
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA609040, 107970
  • Sanger-Sequenzierung
KCNQ1
LMNA
atrial fibrillation, familial, Typ1608583
  • Sanger-Sequenzierung
BCL2
IGHJ
B-CELL CLL/LYMPHOMA 2; BCL2151430
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
BCL1
CCND1
IGHJ
B-CELL LYMPHOMA
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
PTEN
BANNAYAN-RILEY-RUVALCABA SYNDROME153480
  • Sanger-Sequenzierung
Beare-Stevenson cutis gyrata syndrome123790
  • Sanger-Sequenzierung
CDKN1C
H19
IGF2
BECKWITH-WIEDEMANN SYNDROME; BWS130650
  • MLPA (Multiple Ligation-dependent Probe Amplification
BCHE
BUTYRYLCHOLINESTERASE; BCHE177400
  • Sanger-Sequenzierung
KRAS
CARDIOFACIOCUTANEOUS SYNDROME115150
  • Sanger-Sequenzierung
MAP2K1
Cardiofaciocutaneous syndrome 3; CFC3615279
  • Sanger-Sequenzierung
MAP2K2
Cardiofaciocutaneous syndrome 4; CFC4615280
  • Sanger-Sequenzierung
TCAP
Cardiomyopathy, dilated607487
  • Sanger-Sequenzierung
TNNT2
Cardiomyopathy, dilated601494
  • Sanger-Sequenzierung
MYBPC3
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4115197
  • Sanger-Sequenzierung
CATECHOL-O-METHYLTRANSFERASE; COMT116790
  • Sanger-Sequenzierung
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL125310
  • Sanger-Sequenzierung
HTRA1
CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY600142
  • Sanger-Sequenzierung
DNM2
Charcot-Marie-Tooth disease (axonal, type 2M), Charcot-Marie-Tooth disease (dominant intermediate B)606482
  • Sanger-Sequenzierung
Cx32-GJB1
MPZ
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1118210
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
LMNA
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1605588
  • Sanger-Sequenzierung
Cx32-GJB1
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A118220
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
Cx32-GJB1
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B118200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C601098
  • Sanger-Sequenzierung
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D; CMT1D607678
  • Sanger-Sequenzierung
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
Charlot-Marie-Tooth Disease Type 1F607734
  • Sanger-Sequenzierung
DNAI1
CILIARY DYSKINESIA, PRIMARY, 1; CILD1244400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DNAAF2
CILIARY DYSKINESIA, PRIMARY, 10; CILD10612518
  • Sanger-Sequenzierung
CCDC39
CILIARY DYSKINESIA, PRIMARY, 14; CILD14613807
  • Sanger-Sequenzierung
CCDC40
CILIARY DYSKINESIA, PRIMARY, 15; CILD15613808
  • Sanger-Sequenzierung
DNAH5
CILIARY DYSKINESIA, PRIMARY, 3; CILD3608644
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DNAH11
CILIARY DYSKINESIA, PRIMARY, 7; CILD7611884
  • Sanger-Sequenzierung
DNAI2
CILIARY DYSKINESIA, PRIMARY, 9; CILD9612444
  • Sanger-Sequenzierung
RSPH4A
Ciliary dyskinesia, primary, type 11612649
  • Sanger-Sequenzierung
RSPH9
Ciliary dyskinesia, primary, type 12612650
  • Sanger-Sequenzierung
CIAS1
CINCA SYNDROME; CINCA607115
  • Sanger-Sequenzierung
CYP2C19
Clopidogrel-resistance609535
  • Sanger-Sequenzierung
F2
COAGULATION FACTOR II; F2176930
  • PCR-Analyse
MUTYH
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE608456
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MLH1
MSH6
COLORECTAL CANCER; CRC114500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
COLORECTAL CANCER; CRC114500
  • Mikrosatellitenanalyse
COMP-Related Multiple Epiphyseal Dysplasia132400
  • Sanger-Sequenzierung
FKRP
LMNA
Congenital Muscular Dystrophy607855, 616470
  • Sanger-Sequenzierung
FKRP
LMNA
Congenital Muscular Dystrophy#606612
  • Sanger-Sequenzierung
CONTRACTURAL ARACHNODACTYLY, CONGENITAL121050
  • Sanger-Sequenzierung
CPO
COPROPORPHYRIA121300
  • Sanger-Sequenzierung
HRAS
Costello syndrome218040
  • Sanger-Sequenzierung
CYP4F2
VKORC1
Coumarin resistance122700
  • Sanger-Sequenzierung
PTEN
COWDEN DISEASE; CD158350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PRNP
CREUTZFELDT-JAKOB DISEASE; CJD123400
  • Sanger-Sequenzierung
CRI-DU-CHAT SYNDROME123450
  • MLPA (Multiple Ligation-dependent Probe Amplification
UGT1A1
CRIGLER-NAJJAR SYNDROME218800
  • Sanger-Sequenzierung
CROUZON SYNDROME123500
  • Sanger-Sequenzierung
Crouzon syndrome with acanthosis nigricans612247
  • Sanger-Sequenzierung
CFTR
CYSTIC FIBROSIS; CF219700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GJB2
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES124500
  • Sanger-Sequenzierung
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATN1
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA125370
  • PCR-Analyse
  • Triplett-Repeat-Expansion
DES
DESMINOPATHY, PRIMARY601419
  • Sanger-Sequenzierung
AVPR2
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED304800
  • Sanger-Sequenzierung
DIABETES MELLITUS, TRANSIENT NEONATAL601410
  • MLPA (Multiple Ligation-dependent Probe Amplification
MT-TL1
DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED520000
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
DIASTROPHIC DYSPLASIA222600
  • Sanger-Sequenzierung
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD274270
  • PCR-Analyse
SRY
DOSAGE-SENSITIVE SEX REVERSAL; DSS300018
  • Sanger-Sequenzierung
SCN1A
SCN2A
DRAVET SYNDROME607208
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CYP2D6
DRUG METABOLISM, POOR, CYP2D6-RELATED608902
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DMPK
DYSTROPHIA MYOTONICA 1160900
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
CNBP
DYSTROPHIA MYOTONICA 2; DM2602668
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
EHLERS-DANLOS SYNDROME, TYPE I130000
  • Sanger-Sequenzierung
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT130050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT130060
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SPTA1
SPTB
ELLIPTOCYTOSIS 2; EL2130600
  • Sanger-Sequenzierung
FHL1
Emery-Dreifuss muscular dystrophy type 6300696
  • Sanger-Sequenzierung
LMNA
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2181350
  • Sanger-Sequenzierung
LMNA
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE; EDMD3604929
  • Sanger-Sequenzierung
ELOVL5
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD310300
  • Sanger-Sequenzierung
KCNQ2
KCNQ3
EPILEPSY, BENIGN NEONATAL, 1; EBN1121200
  • Sanger-Sequenzierung
SLC2A1
Epilepsy, Childhood Absence, Susceptibility to, 6 (2)611942
  • Sanger-Sequenzierung
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11613721
  • Sanger-Sequenzierung
CDKL5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2300672
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
EPIPHYSEAL DYSPLASIA MULTIPLE 4, EDM4226900
  • Sanger-Sequenzierung
Epiphyseal dysplasia, multiple, type 2; EDM2600204
  • Sanger-Sequenzierung
COL9A3
Epiphyseal dysplasia, multiple, type 3; EDM3600969
  • Sanger-Sequenzierung
MATN3
Epiphyseal dysplasia, multiple, type 5; EDM5607078
  • Sanger-Sequenzierung
COl9a1
Epiphyseal dysplasia, multiple, type 6; EDM6614135
  • Sanger-Sequenzierung
CACNA1A
Episodic Ataxia108500, 160120
  • Sanger-Sequenzierung
CACNA1A
EPISODIC ATAXIA, TYPE 1; EA1160120
  • Sanger-Sequenzierung
FABRY DISEASE301500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
F7
FACTOR VII DEFICIENCY227500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
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
SRCAP
Floating-Harbor Syndrome (FHS)136140
  • Sanger-Sequenzierung
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Deletionsscreening
FRDA
FRIEDREICH ATAXIA 1; FRDA229300
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
  • MLPA (Multiple Ligation-dependent Probe Amplification
GRN
MAPT
FRONTOTEMPORAL DEMENTIA600274, 615911
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ALDOB
FRUCTOSE INTOLERANCE, HEREDITARY229600
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
Fructose-1,6-bisphosphatase deficiency229700
  • Sanger-Sequenzierung
FCMD
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD253800
  • Sanger-Sequenzierung
GALT
GALACTOSEMIA230400
  • Sanger-Sequenzierung
CDH1
GASTRIC CANCER137215
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KIT
PDGFRA
GASTROINTESTINAL STROMAL TUMOR; GIST606764
  • Sanger-Sequenzierung
GAUCHER DISEASE, TYPE I230800
  • Sanger-Sequenzierung
SCN1A
SCN1B
SCN2A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS604233
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PRNP
GERSTMANN-STRAUSSLER DISEASE; GSD137440
  • Sanger-Sequenzierung
UGT1A1
GILBERT SYNDROME143500
  • PCR-Analyse
SLC2A1
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER138140
  • Sanger-Sequenzierung
G6PD
GLUCOSE-6-PHOSPHATE DEHYDROGENASE305900
  • Sanger-Sequenzierung
SLC2A1
GLUT1 deficiency syndrome606777
  • Sanger-Sequenzierung
GYS2
Glycogen storage disease240600
  • Sanger-Sequenzierung
HAGEMAN FACTOR DEFICIENCY234000
  • Sanger-Sequenzierung
HBA1
HBA2
HEINZ BODY ANEMIAS140700
  • Multiplex-PCR
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HAMP
Hemojuvelin
HEMOCHROMATOSIS, JUVENILE; JH602390, 615517
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TFR2
HEMOCHROMATOSIS, TYPE 3; HFE3604250
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SLC11A3
HEMOCHROMATOSIS, TYPE 4; HFE4606069
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HFE
HEMOCHROMATOSIS; HFE235200
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
HBB
HbD
HbE1
HbG1
... (5)
HEMOGLOBIN--BETA LOCUS; HBB141900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HMGCS2
HMG-CoA synthase-2 deficiency605911
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CBS
HOMOCYSTINURIA DUE TO CBS DEFICIENCY236200
  • Sanger-Sequenzierung
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
  • PCR-Analyse
HD
HTT
HUNTINGTON DISEASE; HD143100
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
LMNA
hutchinson-gilford progeria176670
  • Sanger-Sequenzierung
L1CAM
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS307000
  • Sanger-Sequenzierung
DOCK8
Hype-IgE recurrent infection syndrome, autosomal recessive243700
  • MLPA (Multiple Ligation-dependent Probe Amplification
MVK
HYPER-IgD SYNDROME; HIDS260920
  • Sanger-Sequenzierung
KCNJ5
Hyperaldosteronism, familial, type II613677
  • Sanger-Sequenzierung
LDLR
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT143890, 603776
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APOB
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B144010
  • PCR-Analyse
ARH
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH603813
  • Sanger-Sequenzierung
FTL
HYPERFERRITINEMIA-CATARACT SYNDROME600886
  • Sanger-Sequenzierung
SCN4A
HYPERKALEMIC PERIODIC PARALYSIS; HYPP170500
  • Sanger-Sequenzierung
CASR
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT239200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
Cx32-GJB1
MPZ
PMP22
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS145900
  • Sanger-Sequenzierung
CASR
HYPOCALCEMIA, AUTOSOMAL DOMINANT601198
  • Sanger-Sequenzierung
CASR
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 (sowie Typ III; HHC3)145980, 600740
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HYPOCHONDROPLASIA; HCH146000
  • Sanger-Sequenzierung
SCN4A
Hypokalemic periodic paralysis, type 2613345
  • Sanger-Sequenzierung
KCNJ2
HYPOKALEMIC PERIODIC PARALYSIS; HOKPP170400
  • Sanger-Sequenzierung
LCT
HYPOLACTASIA, ADULT TYPE223100
  • PCR-Analyse
HYPOPHOSPHATASIA, ADULT TYPE146300
  • Sanger-Sequenzierung
Hypophosphatasia, childhood, infantile241510
  • Sanger-Sequenzierung
HYPOPHOSPHATASIA, INFANTILE241500
  • Sanger-Sequenzierung
STS
ICHTHYOSIS, X-LINKED308100
  • MLPA (Multiple Ligation-dependent Probe Amplification
DES
INCLUSION BODY MYOPATHY605637, 600737, 614807, 6
  • Sanger-Sequenzierung
CDKL5
INFANTILE SPASM SYNDROME, X-LINKED308350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CARD15
INFLAMMATORY BOWEL DISEASE 1; IBD1266600
  • Sanger-Sequenzierung
TMPRSS6
Iron-refractory iron deficiency anemia206200
  • Sanger-Sequenzierung
KCNQ1
JERVELL AND LANGE-NIELSEN SYNDROME; JLNS1220400
  • Sanger-Sequenzierung
KALLMANN SYNDROME 1; KAL1308700
GJB2
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT148210
  • Sanger-Sequenzierung
Lacrimoauriculodentodigital syndrome149730
  • Sanger-Sequenzierung
SHOX
LANGER MESOMELIC DYSPLASIA249700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
EXT1
TRPS1
LANGER-GIEDION SYNDROME; LGS150230
  • MLPA (Multiple Ligation-dependent Probe Amplification
LEGIUS SYNDROME611431
  • Sanger-Sequenzierung
LEOPARD syndrome 3; LPRD3613707
  • Sanger-Sequenzierung
SHOX
LERI-WEILL DYSCHONDROSTEOSIS; LWD127300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ABL
BCR
ETV6
LEUKEMIA (acute lymphoblastic)613065
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
  • quantitative PCR (realtime PCR)
AML1
ETO
Leukemia (acute myeloid, M2 subtype)
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
  • quantitative PCR (realtime PCR)
p53
LEUKEMIA, CHRONIC LYMPHOCYTIC , B-CLL151400
  • Multiplex-PCR
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
  • Sanger-Sequenzierung
ABL
BCR
LEUKEMIA, CHRONIC MYELOID; CML608232
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
  • quantitative PCR (realtime PCR)
DNAJB6
LGMD1E603511
  • Sanger-Sequenzierung
MYOT
Limb girdle muscular dystrophy type 1A604103
  • Sanger-Sequenzierung
MYOT
Limb girdle muscular dystrophy type 1A159000
  • Sanger-Sequenzierung
LMNA
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2151660
  • Sanger-Sequenzierung
LPL
Lipoprotein lipase deficiency 609708
  • Sanger-Sequenzierung
TGFBR1
TGFBR2
Loeys-Dietz syndrome609192
  • Sanger-Sequenzierung
LONG QT SYNDROME 1; LQT1192500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SCN5A
LONG QT SYNDROME 3; LQT3603830
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MECP2
LUBS X-linked Mental Retardation Syndrome300260
  • MLPA (Multiple Ligation-dependent Probe Amplification
EGFR
Lung Cancer211980
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ATXN3
MACHADO-JOSEPH DISEASE; MJD109150
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
LMNA
mandibulosacral dysplasia type A Lipodystrophy248370
  • Sanger-Sequenzierung
TGFBR1
TGFBR2
Marfan syndrome type II154705
  • Sanger-Sequenzierung
FBN1
TGFBR1
TGFBR2
MARFAN SYNDROME; MFS154700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
L1CAM
MASA SYNDROME303350
  • Sanger-Sequenzierung
HNF4A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1125850
  • Sanger-Sequenzierung
GCK
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2125851
  • Sanger-Sequenzierung
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3600496
  • Sanger-Sequenzierung
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV; MODY4606392
  • Sanger-Sequenzierung
HNF1B
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE V; MODY5604284
  • Sanger-Sequenzierung
CDK4
CDKN2A
MELANOMA-PANCREATIC CANCER SYNDROME606719
  • Sanger-Sequenzierung
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2155601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CDK4
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3609048
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CDK4
CDKN2A
MELANOMA, CUTANEOUS MALIGNANT; CMM155600
  • Sanger-Sequenzierung
MECP2
MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM300055
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MECP2
Mental retardation, X-linked, syndromic (MRXS)300354
  • Sanger-Sequenzierung
ARSA
METACHROMATIC LEUKODYSTROPHY250100
  • Sanger-Sequenzierung
Microcephaly605481, 613402, 614673, 6
  • Sanger-Sequenzierung
ASPM
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5608716
  • Sanger-Sequenzierung
ATP1A2
CACNA1A
MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1141500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ATP1A2
CACNA1A
SCN1A
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2602481
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
LIS 1
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • Single copy FISH (kommerzielle Sonden)
MT-TL1
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS540000
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
ANO5
MIYOSHI MUSCULAR DYSTROPHY 3613319
  • Sanger-Sequenzierung
SLC16A1
Monocarboxylate transporter 1 deficiency; MCT1D616095
  • Sanger-Sequenzierung
CIAS1
MUCKLE-WELLS SYNDROME191900
  • Sanger-Sequenzierung
MUENKE SYNDROME602849
  • Sanger-Sequenzierung
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1131100
  • Sanger-Sequenzierung
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2A171400
  • Sanger-Sequenzierung
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B162300
  • Sanger-Sequenzierung
FKRP
MUSCLE-EYE-BRAIN DISEASE; MEB253280
  • Sanger-Sequenzierung
TCAP
Muscular Dystrophy Limb-Girdle Type 2G (LGMD2G)601954
  • Sanger-Sequenzierung
TTN
Muscular Dystrophy Limb-Girdle Type 2J608807
  • Sanger-Sequenzierung
Muscular Dystrophy Limb-Girdle Type 2J (LGMD2J)608807
  • Sanger-Sequenzierung
DMD
MUSCULAR DYSTROPHY, BECKER TYPE; BMD300376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FKRP
MUSCULAR DYSTROPHY, CONGENITAL, 1C; MDC1C606612
  • Sanger-Sequenzierung
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
LMNA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B159001
  • Sanger-Sequenzierung
CAV3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C607801
  • Sanger-Sequenzierung
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A253600
  • Sanger-Sequenzierung
DYSF
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B253601
  • Sanger-Sequenzierung
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C253700
  • Sanger-Sequenzierung
SGCA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D608099
  • Sanger-Sequenzierung
SGCB
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E604286
  • Sanger-Sequenzierung
SGCD
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F601287
  • Sanger-Sequenzierung
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I607155
  • Sanger-Sequenzierung
Muscular dystrophy, limb-girdle, type 2K609308
  • Sanger-Sequenzierung
ANO5
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L611307
  • Sanger-Sequenzierung
SCN4A
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931, 616040
  • Sanger-Sequenzierung
CBFB
MYH11
MYELOID LEUKEMIA, ACUTE, M4Eo SUBTYPE
  • Single copy FISH (kommerzielle Sonden)
  • Interphase FISH
  • quantitative PCR (realtime PCR)
KMT2A
MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA, TRANSLOCATED TO, 2; MLLT2159557
  • PCR-Analyse
KCNQ2
KCNQ3
MYOKYMIA WITH NEONATAL EPILEPSY606437
  • Sanger-Sequenzierung
DNM2
Myopathy Centronuclear (Autosomal dominant)160150
  • Sanger-Sequenzierung
MYOT
Myotilinopathy609200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SCN4A
Myotonia, potassium-aggravated608390
  • Sanger-Sequenzierung
HLA-DQB1
NARCOLEPSY 1; NRCLP1161400
  • Multiplex-PCR
  • PCR-Analyse
NEONATAL OSSEOUS DYSPLASIA I256050
  • Sanger-Sequenzierung
FTL
Neuroferritinopathy606159
  • Sanger-Sequenzierung
NF1
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
LMNA
Neuropathie, hereditär118300, 613287, 162500, 6
  • Sanger-Sequenzierung
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
KRAS
NOONAN SYNDROME 3609942
  • Sanger-Sequenzierung
Noonan syndrome 7; NS7613706
  • Sanger-Sequenzierung
PABN1
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD164300
  • Fragmentanalyse
LHON
OPA7
OPTIC ATROPHY165300
  • Sanger-Sequenzierung
OPA1
Optic Atrophy Type Kjer165500
  • Sanger-Sequenzierung
COL1A1
COL1A2
Osteogenesis impefecta 2A166210
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL1A1
COL1A2
Osteogenesis imperfecta 3259420
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL1A1
COL1A2
Osteogenesis imperfecta 4166220
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL1A1
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE I166200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SLC4A1
Ovalocytosis, SOUTHEAST ASIAN, SAO109270
  • Sanger-Sequenzierung
CFTR
PRSS1
SPINK
PANCREATITIS, HEREDITARY; PCTT167800
  • Sanger-Sequenzierung
PANK2
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION; PKAN234200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SDHD
PARAGANGLIOMAS 1; PGL1168000
  • Sanger-Sequenzierung
SCN4A
Paramyotonia congenita of von Eulenburg168300
  • Sanger-Sequenzierung
SLC26A4
PENDRED SYNDROME; PDS274600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
TNFRSF1A
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT142680
  • Sanger-Sequenzierung
AN2
PETERS ANOMALY604229
  • Sanger-Sequenzierung
STK11
PEUTZ-JEGHERS SYNDROME; PJS175200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PFEIFFER SYNDROME101600
  • Sanger-Sequenzierung
PAH
PHENYLKETONURIA261600
  • Sanger-Sequenzierung
RET
SDHD
VHL
PHEOCHROMOCYTOMA171300
  • Sanger-Sequenzierung
PAI1
Plasminogen activator inhibitor-1 deficiency613329
  • Sanger-Sequenzierung
PKD2
POLYCYSTIC KIDNEY DISEASE173910, 173900, 263200, 6
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PKD2
POLYCYSTIC KIDNEY DISEASE613095
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PKD1
POLYCYSTIC KIDNEY DISEASE 1; PKD1601313
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DZIP1L
PKHD1
HNF1B
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD263200
  • Sanger-Sequenzierung
PKHD1
HNF1B
FRAS1
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD617610
  • Sanger-Sequenzierung
JAK2
NB1
Polycythämia vera263300
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Porphyria cutanea tarda176100
  • Sanger-Sequenzierung
PPOX
Porphyria variegata176200
  • Sanger-Sequenzierung
PORPHYRIA, ACUTE INTERMITTENT176000
  • Sanger-Sequenzierung
KCNE1
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1; KCNE1176261
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KCNE2
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2; KCNE2613693
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KCNH2
POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2152427
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GABR3
SNRPN
PRADER-WILLI SYNDROME; PWS176270
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse
  • Deletionsscreening
FMR1
Premature Ovarian Failure POF311360
  • Fragmentanalyse
  • Triplett-Repeat-Expansion
PSEN2
PRESENILIN 2; PSEN2600759
  • Sanger-Sequenzierung
progeria, atypical150330
  • Sanger-Sequenzierung
POMC
PROOPIOMELANO-CORTIN DEFICIENCY609734
  • Sanger-Sequenzierung
POMC
PROOPIOMELANOCORTIN; POMC176830
  • 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
PROS1
PROTEIN S, ALPHA; PROS1176880
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PTEN
PROTEUS SYNDROME176920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
Pseudoachondroplasia; PSACH177170
  • Sanger-Sequenzierung
SPTA1
PYROPOIKILOCYTOSIS, HEREDITARY; HPP266140
  • Sanger-Sequenzierung
PKLR
PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE266200
  • Sanger-Sequenzierung
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT179800
  • Sanger-Sequenzierung
LMNA
restrictive lethal dermopathy275210
  • Sanger-Sequenzierung
CDKL5
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
EP300
RUBINSTEIN-TAYBI SYNDROME 2; RSTS2613684
  • Sanger-Sequenzierung
CREBBP
RUBINSTEIN-TAYBI SYNDROME; RSTS180849
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TWIST1
SAETHRE-CHOTZEN SYNDROME; SCS101400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ATXN8OS
SCA8610743
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
FHL1
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM300695
  • Sanger-Sequenzierung
SRY
SEX-DETERMINING REGION Y; SRY480000
  • Sanger-Sequenzierung
KCNH2
SHORT QT SYNDROME 1609620, 609621, 609622
  • Sanger-Sequenzierung
KCNQ1
SHORT QT SYNDROME 2609621
  • Sanger-Sequenzierung
KCNJ2
SHORT QT SYNDROME 3609622
  • Sanger-Sequenzierung
SHOX
SHORT STATURE HOMEOBOX; SHOX312865
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
SBDS
SHWACHMAN-DIAMOND SYNDROME; SDS260400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SCN5A
Sick Sinus Syndrome608567
  • Sanger-Sequenzierung
HBB
SICKLE CELL ANEMIA603903
  • Sanger-Sequenzierung
H19
MEST
SILVER-RUSSELL SYNDROME180860
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse
  • Deletionsscreening
SMITH-MAGENIS SYNDROME; SMS182290
NSD1
SOTOS SYNDROME117550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FOXP2
Speech-language disorder 1602081
  • Sanger-Sequenzierung
AZF
DAZ
RBMY1A1
SRY
... (5)
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
  • Multiplex-PCR
  • Deletionsscreening
ANK1
Spherocytosis, Type 1182900
  • Sanger-Sequenzierung
SPTB
SPHEROCYTOSIS, TYPE 2182870
  • Sanger-Sequenzierung
SPTA1
SPHEROCYTOSIS, TYPE 3; SPH3270970
  • Sanger-Sequenzierung
SLC4A1
SPHEROCYTOSIS, TYPE 4612653
  • Sanger-Sequenzierung
AR
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1313200
  • Triplett-Repeat-Expansion
BIRC1
SMN1
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
ATXN1
ATXN2
ATXN3
Spinocerebellar Ataxia#164400_
  • PCR-Analyse
PPP2R2B
SPINOCEREBELLAR ATAXIA 12; SCA12604326
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
TBP
SPINOCEREBELLAR ATAXIA 17; SCA17607136
  • Triplett-Repeat-Expansion
ATXN2
SPINOCEREBELLAR ATAXIA 2; SCA2183090
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
CACNA1A
SPINOCEREBELLAR ATAXIA 6; SCA6183086
  • Fragmentanalyse
  • Triplett-Repeat-Expansion
ATXN7
SPINOCEREBELLAR ATAXIA 7; SCA7164500
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
ATXN8OS
Spinocerebellar ataxia 8608768
  • PCR-Analyse
ATXN1
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1164400
  • Sanger-Sequenzierung
  • Fragmentanalyse
  • PCR-Analyse
  • Triplett-Repeat-Expansion
OXCT1
Succinyl CoA:3-oxoacid CoA transferase deficiency245050
  • Sanger-Sequenzierung
Thanatophoric dysplasia, type II187601
  • Sanger-Sequenzierung
THANATOPHORIC DYSPLASIA; TD187600
  • Sanger-Sequenzierung
JAK2
NB1
THROMBOCYTHEMIA ESSENTIAL187950
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
RET
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC155240
  • Sanger-Sequenzierung
CACNA1C
Timothy syndrome601005
  • Sanger-Sequenzierung
DYT1
TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1128100
  • Sanger-Sequenzierung
MEG3
Uniparental disomy of chromosome 14
  • Fragmentanalyse
  • DNA-Methylierung
  • Mikrosatellitenanalyse
SNRPN
Uniparental disomy of chromosome 15
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse
USH3A
MYO7A
Usher syndrome276900
  • Sanger-Sequenzierung
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180
  • Sanger-Sequenzierung
VELOCARDIOFACIAL SYNDROME192430
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
CASQ2
Ventricular Tachycardia Catechoaminergic Polymorpic 1 (2)604772, 611938
  • Sanger-Sequenzierung
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC; CPVT604772
  • Sanger-Sequenzierung
VKORC1
Vitamin K dependent clotting factors, combined deficiency607473
  • Sanger-Sequenzierung
GGCX
Vitamin K-Dependent coagulation defect277450
  • Sanger-Sequenzierung
VHL
VON HIPPEL-LINDAU SYNDROME; VHL193300
  • Sanger-Sequenzierung
VWF
Von Willebrand Disease (Normandy Type)193400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
VWF
von Willebrand disease, types 2A, 2B, 2M, and 2N613554
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
VWF
von Willibrand disease, type 3277480
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
AN2
WT1
WAGR SYNDROME194072
  • MLPA (Multiple Ligation-dependent Probe Amplification
FKRP
POMT1
POMT2
WALKER-WARBURG SYNDROME236670, 615041, 615249
  • Sanger-Sequenzierung
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
ATP7B
WILSON DISEASE277900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
WHSC1
WHSC2
WOLF-HIRSCHHORN SYNDROME; WHS194190
  • Single copy FISH (kommerzielle Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MECP2
X-linked mental retardation with progressive spasticity300279
  • Sanger-Sequenzierung

Panels

Gen Name Kategorie Schlagworte/Indikation
DES
DNAJB6
FHL1
MYOT
Imported from Diagnostics
ANO3
CIZ1
COL6A3
DYT1
GNAL
... (8)
neurology
CYP11B1
CYP17A1
CYP19A1
FAM58A
HSD3B2
... (12)
endocrinologic disorders
AKR1C2
AMH
AMHR2
AR
CYB5A
... (23)
endocrinologic disorders
ADRB2
ADRB3
AGRP
BDNF
CARTPT
... (19)
metabolic disorder
BMP4
GANAB
HNF1B
PAX2
PKD1
Renal Diseases
ALS2
ANG
CHCHD10
CHMP2B
DCTN1
... (12)
neurology
ARX
CDKL5
EHMT1
FOXG1
MECP2
... (10)
syndromes
ACTA2
COL3A1
FBN1
MYH11
MYLK
... (9)
connective tissue diseases
CHAT
CHRNA1
CHRNB1
CHRND
CHRNE
... (13)
pneumology
DES
DSC2
DSG2
DSP
JUP
... (10)
cardiology
AFG3L2
FGF14
ITPR1
KCNC3
PDYN
... (10)
neurology
ARL6
BBIP1
BBS1
BBS10
BBS12
... (15)
Renal Diseases
BBS1
BBS10
BBS12
BBS2
BBS6
... (8)
Imported from Diagnostics
BSND
CASR
CLCNKA
CLCNKB
GNA11
... (9)
syndromes
CACNA1C
CACNB2
GLA
GPD1L
HCN4
... (12)
Imported from Diagnostics
CACNA1C
CACNB2
GPD1L
HCN4
KCNE3
... (9)
cardiology
CYP11B1
CYP17A1
CYP19A1
HSD3B2
POR
... (6)
endocrinologic disorders
LMNA
MYBPC3
MYH7
TNNT2
Imported from Diagnostics
MYBPC3
MYH7
TCAP
TNNI3
TNNT2
Imported from Diagnostics
AN2
BFSP1
BFSP2
CRYGC
CRYGD
... (12)
ophthalmology
ACTC1
CITED2
FOXH1
FOXP1
GATA4
... (12)
cardiology
LMNA
MYBPC3
MYH7
SCN5A
TNNT2
cardiology
ACTC1
ACTN2
MYBPC3
MYH6
MYH7
... (14)
HCM
HDAC3
NIPBL
RAD21
SMC3
syndromes
CALM1
CASQ2
KCNJ2
RYANODINE RECEPTOR 2
TRDN
cardiology
ABCA4
ADAM9
CERKL
CNGA3
KCNV2
... (8)
ophthalmology
GABRG2
SCN1A
SCN2A
SCN9A
STXBP1
neurology
ALDH7A1
ARX
CDKL5
FOLR1
GABRA1
... (10)
neurology
ARX
CDKL5
GABRD
GABRG2
PCDH19
... (8)
neurology
CHRNA2
KCNQ2
KCNQ3
PRRT2
SCN2A
... (6)
neurology
ADA2
CARD15
CIAS1
ELA2
IL1RN
... (13)
fever syndromes/ auto-inflammatory disorders
ACP5
ADA2
ADAM17
ADAR
AP1S3
... (47)
fever syndromes/ auto-inflammatory disorders
DNMT3A
EZH2
NFIX
NSD1
SETD2
syndromes
BSND
CASR
CLCNKA
CLCNKB
KCNJ1
... (8)
syndromes
AGL
G6PT1
GAA
GBE1
PFKM
... (9)
metabolic disease
LAMB2
NPHS1
NPHS2
PLCE1
WT1
Renal Diseases
AP3B1
BLOC1S3
DTNBP1
HPS1
HPS3
... (8)
syndromes
ANOS1
DAX1
DUSP6
FEZF1
FGF17
... (26)
endocrinologic disorders
DAX1
FSHB
GNRH1
GNRHR
KISS1
... (12)
endocrinologic disorders
AHI1
CC2D2A
CEP290
MEM67/MKS3
NPHP1
... (6)
syndromes
AN2
CYP1B1
FOXC1
LTBP2
MYOC
... (9)
ophthalmology
ANOS1
DUSP6
FEZF1
FGF17
FGF8
... (14)
endocrinologic disorders
AIPL1
CEP290
CRX
GDF6
GUCY2D
... (11)
ophthalmology
AGPAT2
BSCL2
CAV1
CAVIN1
CIDEC
... (10)
metabolic disorder
ATP6
COX3
MT-CYB
MT-ND1
MT-ND4
... (9)
Imported from Diagnostics
ACAD9
COX15
FOXRED1
NDUFAF2
NDUFAF6
... (20)
syndromes
ANO5
CAPN3
CAV3
DES
DNAJB6
... (16)
Imported from Diagnostics
ARX
DCX
LIS 1
RELN
TUBA1A
syndromes
AKAP9
ANK2
CACNA1C
CAV3
KCNE1
... (13)
Imported from Diagnostics
CACNA1C
CAV3
KCNE1
KCNE2
KCNH2
... (11)
cardiology
ACTC1
DTNA
LDB3
LMNA
MIB1
... (11)
cardiology
ABCC9
EZH2
GPC3
NFIX
NSD1
... (7)
syndromes
BRCA1
BRCA2
CHECK2
PTEN
SDHD
Imported from Diagnostics
ABCC8
APPL1
BLK
CEL
GCK
... (14)
metabolic diseases
LHX1
TBX6
WNT4
WNT9B
fertility disorders
B9D1
B9D2
CC2D2A
CEP290
MKS1
... (9)
syndromes
ACADVL
CPT1A
CPT2
ETFA
ETFB
... (11)
metabolic disorder
ASPM
CDK5RAP2
CDK6
MCPH1
STIL
... (6)
syndromes
ATP1A2
ATP1A3
CACNA1A
SCN1A
SLC1A3
... (6)
neurology
ALDH1A3
AN2
OTX2
RAX
SOX2
... (7)
ophthalmology
ARSB
GALNS
GLB1
GNS
GUSB
... (11)
metabolic disorder
ANO5
CAPN3
CAV3
DES
DYSF
... (12)
muscle disease
AGRN
ALG14
CHAT
CHRNA1
CHRNB1
... (13)
neurology
ACTA1
ATP2A1
CACNA1S
CAV3
CLCN1
... (7)
neurology
KRAS
PTPN11
RAF1
SOS1
Imported from Diagnostics
LEP
LEPR
MC4R
POMC
Imported from Diagnostics
C10ORF11
FRMD7
GPR143
OCA2
SLC24A5
... (9)
metabolic disorder
C10ORF11
FRMD7
GPR143
OCA2
SLC24A5
... (9)
metabolic diseases
ACO2
AFG3L2
ANTXR1
C120rf65
CISD2
... (16)
ophthalmology
ACVRL1
BMPR1B
BMPR2
CAV1
EIF2AK4
... (10)
cardiology
CASR
CFTR
CLDN2
CPA1
CTRC
... (8)
gastroenterologic disorders
ABCD1
ATL1
CYP27A1
FA2H
KIAA1840
... (11)
neurology
AT3
F2
F5
MTHFR
PAI1
... (6)
Imported from Diagnostics
CASK
EXOSC3
RARS2
SEPSECS
TSEN2
... (9)
neurology
ABCC2
ALAD
ALAS2
CPOX
FAH
... (12)
hepatic disorders
ADCK3
ADCK4
ANO10
APTX
COQ2
... (14)
metabolic diseases
FREM2
GATA3
GRIP1
HNF1B
ITGA8
... (7)
Renal Diseases
HPRP3
IMPDH1
KLHL7
NR2E3
PRPF31
... (9)
ophthalmology
AMACR
PEX1
PEX2
PEX26
PEX3
... (8)
metabolic diseases
CEP290
INVS
IQCB1
NPHP1
NPHP4
... (6)
ophthalmology
CEP290
INVS
IQCB1
NPHP1
NPHP3
... (7)
SLSN
ATXN1
ATXN2
ATXN3
ATXN7
CACNA1A
... (6)
Imported from Diagnostics
ATXN1
ATXN2
ATXN3
ATXN7
ATXN8
... (7)
Imported from Diagnostics
CACNA1C
CACNA2D1
KCNH2
KCNJ2
KCNQ1
cardiology
ABCA4
CDH3
CNGB3
ELOVL4
PROM1
... (8)
ophthalmology
ARX
ATRX
CUL4B
DKC1
FTSJ1
... (10)
syndromes
ABCD3
PEX1
PEX10
PEX12
PEX13
... (13)
syndromes

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2020
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2020
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2020
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2020
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2010
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2010
  • molecular genetics
RCPA QAP
2145 Westmead NSW
Deutschland
2010
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2006
INSTAND
40223 Düsseldorf
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2006
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2006
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2006
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2006
  • cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
DGKL
53175 Bonn
Deutschland
2006
  • molecular genetics
DGKL
53175 Bonn
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2005
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2005
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2005
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2005