Einrichtung

SYNLAB MVZ Humangenetik Freiburg GmbH

Prof. Dr. med. Jürgen Kohlhase, Ärztl. Leiter
Heinrich-von-Stephan-Str. 5
79100 Freiburg
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. med. Jürgen Kohlhase

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 22.12.2009
Akkreditierende Organisation: DGA
Beschreibung: Unser Labor ist seit dem 22.12.2009 nach DIN EN ISO / IEC 15189 akkreditiert für medizinische Laboratoriumsdiagnostik (Humangenetik, molekulare Humangenetik) und nach DIN EN ISO / IEC 17025 für forensische Genetik (Deutsche Gesellschaft für Akkreditierung (DGA, vormals DACH, www.dga-mbh.de).

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
PIGV
Hyperphosphatasia with mental retardation syndrome 1239300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BAG3
Myofibrilläre Myopathie (2,4,5)608810, 609524, 609452
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LHX3
PIT1
PROP1
Hypophysenhormon-Defizienz (partiell)262700, 182230
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HMGCL
3-hydroxy-3-methylglutaric aciduria246450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OBSL1
3-M syndrome 2612921
  • Sanger-Sequenzierung
  • Deletionsscreening
MCCC1
MCCC2
3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY210200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CCDC8
CUL7
3M syndrome 1273750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MASP1
3MC syndrome 1257920
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COLEC11
3MC syndrome 2265050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COMP
FGFR3
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC39A4
Acrodermatitis enteropathica, Zinc-deficiency type201100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PDE4D
Acrodysostosis 2, with or without hormone resistance614613
  • Sanger-Sequenzierung
  • Deletionsscreening
SF3B4
Acrofacial dysostosis 1, Nager type154400
  • Sanger-Sequenzierung
  • Deletionsscreening
ACADM
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF201450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MUTYH
ADENOMATOUS POLYPOSIS OF THE COLON; APC175100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AMPD1
ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1102770
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ADRENAL HYPERPLASIA II201810
  • Sanger-Sequenzierung
CYP11B1
CYP21
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
DAX1
ADRENAL HYPOPLASIA, CONGENITAL; AHC300200
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ABCD1
ADRENOLEUKODYSTROPHY; ALD300100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
JAG1
NOTCH2
ALAGILLE SYNDROME; AGS118450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GPR143
ALBINISM, OCULAR, TYPE I; OA1300500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OCA2
ALBINISM, OCULOCUTANEOUS, TYPE II203200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TYRP1
Albinism, oculocutaneous, type III203290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GNAS
ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO103580
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
GFAP
ALEXANDER DISEASE203450
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC16A2
ALLAN-HERNDON-DUDLEY SYNDROME300523
  • Sanger-Sequenzierung
  • Deletionsscreening
POLG
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS203700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACAT1
ALPHA-METHYLACETOACETIC ACIDURIA203750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX301040
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL4A3
COL4A4
ALPORT SYNDROME, AUTOSOMAL RECESSIVE203780
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
COL4A5
ALPORT SYNDROME, X-LINKED; ATS301050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
FOXF1
Alveolar capillary dysplasia with misalignment of pulmonary veins265380
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRNP
ALZHEIMER DISEASE, EARLY-ONSET FAMILIAL, WITH COEXISTING AMYLOID AND PRION PATHOLOGY605055
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APP
MAPT
PSEN1
ALZHEIMER DISEASE; AD104300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
C9ORF72
FIG4
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1105400, 615911, 616439
  • Sanger-Sequenzierung
  • Deletionsscreening
ALS2
Amyotrophic Lateral Sclerosis 2, juvenile; ALS2205100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SEC23B
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II224100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SMAD3
Aneurysms-osteoarthritis syndrome613795
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
C1NH
HANE
ANGIOEDEMA, HEREDITARY; HAE106100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AN2
ANIRIDIA, TYPE II; AN2106210
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KCNJ1
Antenatal Bartter syndrome type 2241200
  • Sanger-Sequenzierung
  • Deletionsscreening
MYH11
Aortic aneurysm, familial thoracic 4, AAT4132900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACTA2
Aortic aneurysm, familial thoracic 6, AAT6611788
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC2A10
Arterial tortuosity syndrome, ATS208050
  • Sanger-Sequenzierung
MYBPC1
Arthrogryposis, distal, type 1b; DA1B614335
  • Sanger-Sequenzierung
  • Deletionsscreening
MYH8
Arthrogryposis, distal, type 7; DA7158300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NLGN3
NLGN4
ASPERGER SYNDROME300494
  • Sanger-Sequenzierung
  • Deletionsscreening
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
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DTDST / SLC26A2
FLNB
Atelosteogenesis108720, 256050, 108721
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HOXA1
ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME601536
  • Sanger-Sequenzierung
SLC6A2
ATRANSFERRINEMIA209300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
GATA4
NKX2-5
TBX1
Atrial-septal defect607941
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
NRXN1
Autism209850
  • Sanger-Sequenzierung
  • Deletionsscreening
GNAL
Autosomal dominant focal dystonia, DYT25615073
  • Sanger-Sequenzierung
  • Deletionsscreening
GRIN2B
autosomal dominant Mental retardation 6613970
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TUBB4A
autosomal dominant torsion Dystonia 4128101
  • Sanger-Sequenzierung
  • Deletionsscreening
HES7
LFNG
autosomal recessive Spondylocostal dysostosis609813, 608059
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PTCH
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1605462
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PTCH
BASAL CELL NEVUS SYNDROME; BCNS109400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDKN1C
BECKWITH-WIEDEMANN SYNDROME; BWS130650
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NKX2-1
Benign hereditary chorea118700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BSCL2
Berardinelli-Seip-congenital Lipodystrophy270685
  • Sanger-Sequenzierung
GP1BA
GP1BB
GP9
Bernard-Soulier- Syndrome231200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL6A1
COL6A2
COL6A3
Bethlem Myopathy158810
  • Sanger-Sequenzierung
  • Deletionsscreening
NOTCH1
SMAD6
Bicuspid aortic valve109730
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4214950
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BTD
BIOTINIDASE DEFICIENCY253260
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BLM
Bloom syndrome210900
  • Sanger-Sequenzierung
  • Deletionsscreening
PHF6
BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS301900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Brachydactyly-mental retardation syndrome600430
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ZNF469
Brittle cornea syndrome229200
  • Sanger-Sequenzierung
  • Deletionsscreening
ATP2A1
Brody myopathy601003
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PLOD2
Bruck syndrome609220
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CACNA1C
BRUGADA SYNDROME601144, 611875, 611876, 6
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MAOA
Brunner syndrome300615
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LEMD3
BUSCHKE-OLLENDORFF SYNDROME166700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BCHE
BUTYRYLCHOLINESTERASE; BCHE177400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TGFB1
CAMURATI-ENGELMANN DISEASE131300
  • Sanger-Sequenzierung
  • Deletionsscreening
ASPA
Canavan disease271900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCC9
Cantu syndrome239850
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AGGF1
RASA1
capillary malformation-arteriovenous malformation608354
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
CPS1
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO237300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRKAR1A
CARNEY COMPLEX, TYPE 1; CNC1160980
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CPT2
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET255110
  • Sanger-Sequenzierung
RYR1
Central Core Disease of Muscle117000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VLDLR
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1224050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL125310
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HTRA1
CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY600142
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CCM2
CEREBRAL CAVERNOUS MALFORMATIONS; CCM116860
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GAMT
Cerebral creatine deficiency syndrome 2612736
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SNAP29
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME609528
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYP27A1
Cerebrotendinous Xanthomatosis213700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLN6
Ceroid lipofuscinosis neuronal 6601780
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PPT1
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1256730
  • Sanger-Sequenzierung
CLN2
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE; CLN2204500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLN3
CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3204200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABHD5
Chanarin-Dorfman syndrome275630
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DNM2
Charcot-Marie-Tooth disease (axonal, type 2M), Charcot-Marie-Tooth disease (dominant intermediate B)606482
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HSPB1
Charcot-Marie-Tooth disease (axonal) type 2F606595
  • Sanger-Sequenzierung
  • Deletionsscreening
AARS
Charcot-Marie-Tooth disease (axonal) type 2N613287
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2609260
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HSPB8
Charcot-Marie-Tooth disease, axonal, type 2L608673
  • Sanger-Sequenzierung
  • Deletionsscreening
CHD7
SEMA3E
CHARGE SYNDROME214800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LYST
CHEDIAK-HIGASHI SYNDROME214500
  • Sanger-Sequenzierung
  • Deletionsscreening
VPS13A
Chorea-acanthocytosis200150
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NKX2-1
Choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress610978
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC25A13
CITRULLINEMIA TYPE II603471
  • Sanger-Sequenzierung
  • Deletionsscreening
ASS
Citrullinemia, classic215700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLCNKB
Classic Bartter syndrome607364
  • Sanger-Sequenzierung
  • Deletionsscreening
RUNX2
CLEIDOCRANIAL DYSPLASIA; CCD119600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
F2
COAGULATION FACTOR II; F2176930
  • Sanger-Sequenzierung
  • Deletionsscreening
RPS6KA3
COFFIN-LOWRY SYNDROME; CLS303600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COH1 (VPS13B)
Cohen Syndrome216550
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SALL2
Coloboma, ocular, autosomal recessive216820
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COMP
MATN3
COMP-Related Multiple Epiphyseal Dysplasia132400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC33A1
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION614482
  • Sanger-Sequenzierung
  • Deletionsscreening
MPI
PMM2
Congenital disorder of glycosylation type Ib, 1a602579, 212065
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COG7
Congenital disorder of glycosylation type IIe608779
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALG6
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic603147
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC35C1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc266265
  • Sanger-Sequenzierung
  • Deletionsscreening
CDAN1
congenital dyserythropoietic Anemia type I224120
  • Sanger-Sequenzierung
  • Deletionsscreening
KIF21A
PHOX2A
TUBB3
Congenital fibrosis of extraocular muscles type 1135700
  • Sanger-Sequenzierung
LIPN
congenital Ichthyosis autosomal recessive 8613943
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FKRP
LMNA
Congenital Muscular Dystrophy#606612
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACTA1
SEPN1
TPM3
Congenital myopathy(fiber-type disproportion); dominant255310, 608358
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CONTRACTURAL ARACHNODACTYLY, CONGENITAL121050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC4A11
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS217400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TGFBI
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I608470
  • Sanger-Sequenzierung
  • Deletionsscreening
ARX
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA300004
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CNTNAP2
Cortical dysplasia-focal epilepsy syndrome610042
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Costello syndrome218040
  • Sanger-Sequenzierung
  • Deletionsscreening
SLC6A8
creatine deficiency syndrome, X-linked300352
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRNP
CREUTZFELDT-JAKOB DISEASE; CJD123400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UGT1A1
CRIGLER-NAJJAR SYNDROME218800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HLXB9
CURRARINO SYNDROME 176450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYLD
CYLINDROMATOSIS, FAMILIAL; CYLD132700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CFTR
CYSTIC FIBROSIS; CF219700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CTNS
Cystinosis, nephropathic219800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC3A1
CYSTINURIA; CSNU220100
  • Sanger-Sequenzierung
  • Deletionsscreening
LAMP2
Danon Disease300257
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP2A2
DARIER-WHITE DISEASE124400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
STRC
DEAFNESS, AUTOSOMAL RECESSIVE600060, 601868, 609706
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AQP2
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT125800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AQP2
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE222000
  • Sanger-Sequenzierung
  • Deletionsscreening
AVPR2
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED304800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AVP
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE125700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
INSR
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS610549
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
MATR3
distal Myopathy 2606070
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DAX1
DHH
OX9
DOSAGE-SENSITIVE SEX REVERSAL; DSS300018
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EFEMP1
Doyne Honeycomb Retinal Dystrophy126600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CHN1
Duane retraction syndrome Type 2604356
  • Sanger-Sequenzierung
SALL4
DUANE-RADIAL RAY SYNDROME; DRRS607323
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABCC2
Dubin-Johnson syndrome237500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NHP2
Dyskeratosis congenita, autosomal recessive 2613987
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DKC1
Dyskeratosis congenita, X-linked305000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRKRA
Dystonia 16612067
  • Sanger-Sequenzierung
  • Deletionsscreening
ANO3
DYSTONIA 24615034
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DYT3
LRRK2
SLC6A3
Dystonia 3, Torsion, X-linked; DYT3314250
  • Sanger-Sequenzierung
ATP1A3
DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP128235
  • Sanger-Sequenzierung
GCH1
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION128230
  • Sanger-Sequenzierung
CNBP
DYSTROPHIA MYOTONICA 2; DM2602668
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCE
DYT11 (Myoclonic-dystonia syndrome)159900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
THAP1
DYT6602629
  • Sanger-Sequenzierung
ARHGEF9
early infantile Epileptic encephalopathy 8300607
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APP
PSEN1
PSEN2
Early-Onset Familial Alzheimer Disease104300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TP63
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3604292
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
COL1A1
COL5A1
COL5A2
EHLERS-DANLOS SYNDROME, TYPE I130000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL3A1
TNXB
EHLERS-DANLOS SYNDROME, TYPE III130020
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL3A1
COL5A1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT130050
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
PLOD1
EHLERS-DANLOS SYNDROME, TYPE VIA225400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ADAMTS2
COL1A1
COL1A2
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT130060
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FHL1
SYNE2
TF
Emery-Dreifuss muscular dystrophy, autosomal dominant612999, 300696
  • Sanger-Sequenzierung
  • Deletionsscreening
COL7A1
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE131750
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
EXPH5
KRT14
KRT5
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE131760
  • Sanger-Sequenzierung
LAMA3
LAMB3
LAMC2
Epidermolysis bullosa letalis226700
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
PLEC
EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY226670
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ITGA6
ITGB4
Epidermolysis bullosa with pyloric atresia226730
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
COL17A1
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN; GABEB226650
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
KRT10
KRT2
Epidermolytic hyperkeratosis113800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KCNQ2
KCNQ3
EPILEPSY, BENIGN NEONATAL, 1; EBN1121200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PCDH19
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; EFMR300088
  • Sanger-Sequenzierung
  • Deletionsscreening
EFHC1
EPILEPSY, MYOCLONIC JUVENILE254770
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EPILEPSY, PYRIDOXINE-DEPENDENT; EPD266100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDKL5
PLCB1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2300672
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CACNA1A
KCNA1
SLC1A3
EPISODIC ATAXIA, TYPE 1; EA1160120
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MYH9
EPSTEIN SYNDROME153650
  • Sanger-Sequenzierung
MYH9
Epstein/Fechner syndrome153650
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJB3
GJB4
ERYTHROKERATODERMIA VARIABILIS; EKV133200
  • Sanger-Sequenzierung
FABRY DISEASE301500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FGD1
FACIOGENITAL DYSPLASIA305400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
F5
FACTOR V DEFICIENCY227400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FAMILIAL MEDITERRANEAN FEVER; FMF249100
  • Sanger-Sequenzierung
  • Deletionsscreening
FANCA
FANCONI ANEMIA; FA227650
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC2A2
FANCONI-BICKEL SYNDROME227810
  • Sanger-Sequenzierung
ASAH1
FARBER LIPOGRANULOMATOSIS228000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRNP
FATAL FAMILIAL INSOMNIA; FFI600072
  • Sanger-Sequenzierung
MIR17HG
MYCN
Feingold syndrome164280
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MED12
FG syndrome / FG syndrome 1305450
  • Sanger-Sequenzierung
ACVR1
Fibrodysplasia ossificans progressiva (FOP) 135100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SRCAP
Floating-Harbor Syndrome (FHS)136140
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PORCN
FOCAL DERMAL HYPOPLASIA305600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • Sanger-Sequenzierung
  • Deletionsscreening
SH3PXD2B
Frank-ter Haar syndrome249420
  • Sanger-Sequenzierung
  • Deletionsscreening
C9ORF72
GRN
MAPT
FRONTOTEMPORAL DEMENTIA600274, 615911
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALDOB
FBP1
FRUCTOSE INTOLERANCE, HEREDITARY229600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FBP1
KHK
Fructose-Intolerance (hereditary)229600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Fucosidosis230000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FCMD
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD253800
  • Sanger-Sequenzierung
  • Deletionsscreening
FH
FUMARASE DEFICIENCY606812
  • Sanger-Sequenzierung
  • Deletionsscreening
GALT
GALACTOSEMIA230400
  • Sanger-Sequenzierung
  • Deletionsscreening
CTSA
Galactosialidosis256540
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDH1
GASTRIC CANCER137215
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PDGFRA
GASTROINTESTINAL STROMAL TUMOR; GIST606764
  • Sanger-Sequenzierung
  • Deletionsscreening
GAUCHER DISEASE, TYPE I230800
  • Sanger-Sequenzierung
ADAMTSL2
GELEOPHYSIC DYSPLASIA231050
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
KAT6B
MED12
GENITOPATELLAR SYNDROME; GTPTS606170
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UGT1A1
GILBERT SYNDROME143500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC12A3
GITELMAN SYNDROME263800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
CSF1R
GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL221820
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GLMN
Glomuvenous Malformations; GVM138000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC2A1
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER138140
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GLUTARIC ACIDEMIA I231670
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
C7orf10
Glutaric aciduria III231690
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Glycogen storage disease240600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GLYCOGEN STORAGE DISEASE I232200
  • Sanger-Sequenzierung
G6PT1
GLYCOGEN STORAGE DISEASE Ib232220
  • Sanger-Sequenzierung
G6PT1
GLYCOGEN STORAGE DISEASE Ic232240
  • Sanger-Sequenzierung
GAA
GLYCOGEN STORAGE DISEASE II232300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AGL
glycogen storage disease III232400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GBE1
GLYCOGEN STORAGE DISEASE IV232500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Glycogen storage disease type IV607839
  • Sanger-Sequenzierung
PYGL
PYGM
GLYCOGEN STORAGE DISEASE V232600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PFKM
Glycogen storage disease VII232800
  • Sanger-Sequenzierung
  • Deletionsscreening
GLYCOGEN STORAGE DISEASE X261670
  • Sanger-Sequenzierung
  • Deletionsscreening
LDHA
Glycogen storage disease XI612933
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIAA1279
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME609460
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CYBA
CYBB
Granulomatous disease, chronic, X-linked306400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GLI3
KIF7
Greig cephalopolysyndactyly syndrome175700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MLPH
MYO5A
RAB27A
Griscelli syndrome214450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC6A19
Hartnup-Krankheit234500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HAMP
Hemojuvelin
HEMOCHROMATOSIS TYPE 2602390
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HEMOCHROMATOSIS, JUVENILE; JH602390, 615517
  • Sanger-Sequenzierung
  • Deletionsscreening
TFR2
HEMOCHROMATOSIS, TYPE 3; HFE3604250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC11A3
HEMOCHROMATOSIS, TYPE 4; HFE4606069
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HFE
HEMOCHROMATOSIS; HFE235200
  • Sanger-Sequenzierung
  • Deletionsscreening
HBB
HEMOGLOBIN--BETA LOCUS; HBB141900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MMACHC
THBD
HEMOLYTIC-UREMIC SYNDROME; HUS235400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRF1
Hemophagocytic lymphohistiocytosis, familial267700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HEMOPHILIA A306700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
F9
HEMOPHILIA B; HEMB306900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CCBE1
FAT4
FLT4
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME235510
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HERMANSKY-PUDLAK SYNDROME 2608233
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FLNA
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT300049
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SALL4
TBX5
HOLT-ORAM SYNDROME; HOS142900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CBS
HOMOCYSTINURIA DUE TO CBS DEFICIENCY236200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HTT
TBP
HUNTINGTON DISEASE; HD143100
  • Sanger-Sequenzierung
  • Deletionsscreening
IDUA
HURLER-SCHEIE SYNDROME607015
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ANTXR2
HYALINE FIBROMATOSIS SYNDROME228600
  • Sanger-Sequenzierung
  • Deletionsscreening
L1CAM
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS307000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HYLS1
Hydrolethalus syndrome236680
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APOB
LDLR
PCSK9
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT143890, 603776
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
GLRA1
GLRB
SLC6A5
HYPEREKPLEXIA, HEREDITARY149400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FTL
HYPERFERRITINEMIA-CATARACT SYNDROME600886
  • Sanger-Sequenzierung
  • Deletionsscreening
HADH
Hyperinsulinemic hypoglycemia, familial, 4609975
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GCK
GLUD1
Hyperinsulinemic hypoglycemia, familial, type 3602485
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CACNA1S
SCN4A
HYPERKALEMIC PERIODIC PARALYSIS; HYPP170500
  • Sanger-Sequenzierung
GRHPR
Hyperoxaluria type II260000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
AGXT
Hyperoxaluria, primary, type I259900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
QDPR
Hyperphenylalaninemia, BH4-deficient C261630
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PCBD1
Hyperphenylalaninemia, BH4-deficient, D264070
  • Sanger-Sequenzierung
  • Deletionsscreening
POLR3A
POLR3B
Hypomyelinating leukodystrophy607694
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALPL
Hypophosphatasia (infantile, childhood, adult)241500, 241510, 146300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HYPOPHOSPHATEMIA, X-LINKED307800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DMP1
Hypophosphatemic rickets, AR241520
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FGF23
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR193100
  • Sanger-Sequenzierung
  • Deletionsscreening
PAX8
TG
TPO
Hypothyreosis, congenital274500, 218700, 274700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
HPRT1
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1308000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PNPLA1
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10615024
  • Sanger-Sequenzierung
  • Deletionsscreening
STS
ICHTHYOSIS, X-LINKED308100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FLG
Ichtyosis146700
  • Sanger-Sequenzierung
IGF1R
IGF1 resistance270450
  • Sanger-Sequenzierung
  • Deletionsscreening
AMN
CUBN
Imerslund-Gräsbeck syndrome261100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ADA
Immunodeficiency, severe combined102700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FOXP3
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked304790
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ARX
CDKL5
INFANTILE SPASM SYNDROME, X-LINKED308350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
CARD15
INFLAMMATORY BOWEL DISEASE 1; IBD1266600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
GIF
Intrinsic factor deficiency261000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
IVD
ISOVALERIC ACIDEMIA; IVA243500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MEM67/MKS3
Joubert Syndrome608629, 610688
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
KDM6A
KMT2D
Kabuki syndrome147920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NELF
SEMA3A
WDR11
KALLMANN SYNDROME 1; KAL1308700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ANKRD11
KBG syndrome148050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJB2
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT148210
  • Sanger-Sequenzierung
DSG1
KERATOSIS PALMOPLANTARIS STRIATA148700
  • Sanger-Sequenzierung
  • Deletionsscreening
KIND1
KINDLER SYNDROME173650
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
LHX1
Klippel-Feil-Syndrome601076
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GALC
PSAP
KRABBE DISEASE245200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
APT13A2
Kufor-Rakeb Syndrome606693
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
L2HGDH
L-2-Hydroxyglutaric Aciduria236792
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FGF10
FGFR2
FGFR3
Lacrimoauriculodentodigital syndrome149730
  • Sanger-Sequenzierung
  • Deletionsscreening
CEP290
GUCY2D
LEBER CONGENITAL AMAUROSIS, TYPE I;204000, 617781, 617023
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CEP290
Leber Congenital Amaurosis, Type X; LCA10611755
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MT-ND1
MT-ND4
MT-ND6
LEBER OPTIC ATROPHY535000
  • Sanger-Sequenzierung
  • Deletionsscreening
DTNA
Left ventricular noncompaction 1604169
  • Sanger-Sequenzierung
  • Deletionsscreening
MT-ND6
LEIGH SYNDROME; LS256000
  • Sanger-Sequenzierung
  • Deletionsscreening
PDGFRA
PDGFRB
LEUKEMIA (acute lymphoblastic)613065
  • Sanger-Sequenzierung
LMNB1
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT169500
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DARS2
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation611105
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RNASET2
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY612951
  • Sanger-Sequenzierung
  • Deletionsscreening
CHECK2
p53
LI-FRAUMENI SYNDROME 1; LFS1151623
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SCNN1B
SCNN1G
LIDDLE SYNDROME177200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
STAR
LIPOID CONGENITAL ADRENAL HYPERPLASIA201710
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ECM1
LIPOID PROTEINOSIS247100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
LIS 1
LISSENCEPHALY I; LIS1607432
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ARX
DCX
LISSENCEPHALY, X-LINKED300067
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
EGFR
Lung Cancer211980
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJA12
LYMPHEDEMA, HEREDITARY, I153100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CTSC
SLURP1
Mal de Meleda248300
  • Sanger-Sequenzierung
CACNA1S
RYR1
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1145600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL11A1
MARSHALL SYNDROME154780
  • Sanger-Sequenzierung
KIT
MAST CELL DISEASE154800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GCK
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE II; MODY2125851
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HNF1A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3600496
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BBS6
McKusick-Kaufman syndrome236700
  • Sanger-Sequenzierung
  • Deletionsscreening
CC2D2A
Meckel-Gruber Syndrome249000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
HEPACAM
MLC1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS GENE 1; MLC1604004
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDK4
CDKN2A
MELANOMA, CUTANEOUS MALIGNANT; CMM155600
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CASK
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia300749
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Mental retardation, autosomal recessive 5611091
  • Sanger-Sequenzierung
  • Deletionsscreening
MEF2C
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS613443
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UPF3B
Mental Retardation, X-linked, Syndromic 14300676
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SOX3
MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY; MRGH300123
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ARSA
PSAP
METACHROMATIC LEUKODYSTROPHY250100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PTH1R
Metaphyseal chondrodysplasia, Murk Jansen type156400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
MTR
MTRR
Methylcobalamine deficiency250940
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MMACHC
MMADHC
Methylmalonic aciduria and homocystinuria cblC type277400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY251000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5608716
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP1A2
CACNA1A
SCN1A
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2602481
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
DHOD1
Miller Syndrome263750
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mitochondrial complex I deficiency252010
  • Sanger-Sequenzierung
  • Deletionsscreening
MT-ND1
MT-ND6
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS540000
  • Sanger-Sequenzierung
  • Deletionsscreening
ANO5
MIYOSHI MUSCULAR DYSTROPHY 3613319
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MOHR-TRANEBJAERG SYNDROME; MTS304700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GPHN
MOLYBDENUM COFACTOR DEFICIENCY252150
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MOWAT-WILSON SYNDROME235730
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
  • quantitative PCR (realtime PCR)
CIAS1
MUCKLE-WELLS SYNDROME191900
  • Sanger-Sequenzierung
GNPTAB
MCOLN1
Mucolipidosis252600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGSH
Mucopolysaccharidosis 3A252900
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
NAGLU
Mucopolysaccharidosis 3B252920
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
HGSNAT
Mucopolysaccharidosis 3C252930
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
GNS
Mucopolysaccharidosis 3D252940
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mucopolysaccharidosis 4A253000
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mucopolysaccharidosis 4B253010
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mucopolysaccharidosis 6253200
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
Mucopolysaccharidosis 7253220
  • Sanger-Sequenzierung
  • Deletionsscreening
MUCOPOLYSACCHARIDOSIS TYPE II309900
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ETFA
ETFB
ETFDH
Multiple Acyl-CoA Dehydrogenase Deficiency231680
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B162300
  • Sanger-Sequenzierung
  • Deletionsscreening
EIF2AK3
MULTIPLE EPIPHYSEAL DYSPLASIA WITH EARLY-ONSET DIABETES MELLITUS226980
  • Sanger-Sequenzierung
  • Deletionsscreening
SUMF1
MULTIPLE SULFATASE DEFICIENCY; MSD272200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POMGNT1
MUSCLE-EYE-BRAIN DISEASE; MEB253280
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • quantitative PCR (realtime PCR)
LMNA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B159001
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CAV3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C607801
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CAPN3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A253600
  • Sanger-Sequenzierung
  • Deletionsscreening
DYSF
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B253601
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C; LGMD2C253700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D; LGMD2D608099
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCB
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E604286
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SGCD
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F; LGMD2F601287
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I607155
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
BIN1
Myopathy Centronuclear (Autosomal ressecive)255200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
LDB3
Myopathy Myofibrillar (ZASP-related)609452
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VMA21
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY310440
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CLCN1
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE255700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LMX1B
NAIL-PATELLA SYNDROME; NPS161200
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
NHS
NANCE-HORAN SYNDROME302350
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NPHP1
NEPHRONOPHTHISIS 1; NPHP1256100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NPHS1
WT1
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1256300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SPINK5
Netherton syndrome256500
  • CGH (Comparative Genome Hybridisation)
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PHGDH
Neu-Laxova syndrome256520
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FUZ
VANGL1
Neural tube defects182940
  • Sanger-Sequenzierung
  • Deletionsscreening
ALK
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3; NBLST3613014
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NF1
SPRED1
NEUROFIBROMATOSIS, TYPE I; NF1162200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DNAJC5
neuronal Ceroid lipofuscinosis 4, Parry type162350
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
REEP1
Neuronopathy, distal hereditary motor, type VB614751
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAB7
Neuropathy (Charlot-Marie-Tooth) Type 2B600882
  • Sanger-Sequenzierung
  • Deletionsscreening
PRPS1
Neuropathy (Charlot-Marie-Tooth) Type X5311070
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
IKBKAP
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3223900
  • Sanger-Sequenzierung
  • Deletionsscreening
SMPD1
NIEMANN-PICK DISEASE, TYPE A257200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NPC1
NPC2
NIEMANN-PICK DISEASE, TYPE C1; NPC1257220
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GNE
NONAKA DISTAL MYOPATHY605820
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MPLKIP
nonphotosensitive Trichothiodystrophy 1234050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FRMD7
NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1310700
  • Sanger-Sequenzierung
  • Deletionsscreening
MC1R
OCULOCUTANEOUS ALBINISM TYPE II203200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OCA2
SLC45A2
TYR
OCULOCUTANEOUS ALBINISM, TYPE I; OCA1203100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJA1
OCULODENTODIGITAL DYSPLASIA164200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PABN1
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD164300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAG1
OMENN SYNDROME603554
  • Sanger-Sequenzierung
  • Deletionsscreening
Opitz C211750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MID1
Opitz GBBB Syndrome300000, 145410
  • Sanger-Sequenzierung
  • Deletionsscreening
OPTIC ATROPHY165300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OTC
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO311250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CXORF5
Orofaciodigital syndrome I311200
  • Sanger-Sequenzierung
  • Deletionsscreening
ACVRL1
OSLER-RENDU-WEBER SYNDROME 2; ORW2600376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FKBP10
Osteogenesis imperfecta type VI610968
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AN1
COL1A1
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE I166200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FAM123B
Osteopathia striata with cranial sclerosis300373
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KRT9
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK144200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CFTR
PANCREATITIS, HEREDITARY; PCTT167800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAPILLON-LEFEVRE SYNDROME245000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAX2
PAPILLORENAL SYNDROME120330
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SDHB
SDHC
SDHD
PARAGANGLIOMAS 1; PGL1168000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PGN
PARAPLEGIN; SPG7607259
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ALX4
MSX2
Parietal Foramina168500
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
MR1
PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1118800
  • Sanger-Sequenzierung
PLP1
PELIZAEUS-MERZBACHER DISEASE; PMD312080
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
GJA12
Pelizeaus-Merzbacher-Like Disease 1608804
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC26A4
PENDRED SYNDROME; PDS274600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TNFRSF1A
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT142680
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Periventricular nodular heterotopia, autosomal recessive608097
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PEX7
PHYH
PEROXISOME BIOGENESIS DISORDER 9B614879
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HARS2
HSD17B4
PERRAULT SYNDROME233400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HARS2
LARS2
Perrault syndrome 2, 4614926, 615300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
B3GALTL
Peters-Plus Syndrome261540
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
STK11
PEUTZ-JEGHERS SYNDROME; PJS175200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PHGDH
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY601815
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
TCF4
Pitt-Hopkins syndrome610954
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DICER1
Pleuropulmonary blastoma601200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NPHS2
PODOCIN; NPHS2604766
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PKHD1
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD263200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
JAK2
Polycythämia vera263300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ABHD12
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract612674
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VRK1
Pontocerebellar Hypoplasia Type 1607596
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
COL4A1
COL4A2
Porencephaly, familal175780
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PORPHYRIA, ACUTE INTERMITTENT176000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DHOD1
POSTAXIAL ACROFACIAL DYSOSTOSIS263750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAI1
POTOCKI-LUPSKI SYNDROME610883
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
OPTN
Primary Open Angle Glaucoma (Adult Onset)137760
  • Sanger-Sequenzierung
  • Deletionsscreening
POLG2
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4610131
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PCCA
PCCB
PROPIONIC ACIDEMIA606054
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PI
PROTEASE INHIBITOR 1; PI107400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NR3C2
Pseudohypoaldosteronism (autosomal dominant)177735
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
ABCC6
Pseudoxanthoma elasticum; PXE264800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CTSK
Pycnodysostosis265800
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
PC
Pyruvate carboxylase deficiency266150
  • Sanger-Sequenzierung
  • Deletionsscreening
PDHX
PYRUVATE DECARBOXYLASE DEFICIENCY312170
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
UPK3A
Renal adysplasia191830
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MET
RENAL CELL CARCINOMA, PAPILLARY605074
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SLC5A2
RENAL GLUCOSURIA; GLYS1233100
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ZMPSTE24
restrictive lethal dermopathy275210
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KCNV2
Retinal cone dystrophy 3B610356
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ABCA4
BEST1
Retinitis pigmentosa268000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CDKL5
FOXG1
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AGPS
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3600121
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RPIA
RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY608611
  • Sanger-Sequenzierung
  • Deletionsscreening
CYP1B1
FOXC1
PITX2
RIEGER SYNDROME, TYPE 1180500
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
ESCO2
Roberts syndrome268300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
WNT5A
Robinow syndrome (autosomal dominant)180700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ROR2
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE268310
  • Sanger-Sequenzierung
RECQL4
USB1
Rothmund-Thomson syndrome268400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CREBBP
EP300
RUBINSTEIN-TAYBI SYNDROME; RSTS180849
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HEXB
Sandhoff disease268800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PRKCG
SCA14605361
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ITPR1
SCA15606658
  • Sanger-Sequenzierung
  • Deletionsscreening
FGF14
SCA27609307
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATXN8OS
SYNE1
SCA8610743
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SETBP1
SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME269150
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EMX2
SCHIZENCEPHALY269160
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HSPG2
LIFR
Schwartz-Jampel syndrome255800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LTBP3
selective Tooth agenesis 6613097
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SPR
Sepiapterin Reductase Deficiency182125
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HESX1
SEPTOOPTIC DYSPLASIA182230
  • Sanger-Sequenzierung
DDR2
short limb-hand type Spondylometaepiphyseal dysplasia271665
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PIK3R1
SHORT syndrome269880
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SBDS
SHWACHMAN-DIAMOND SYNDROME; SDS260400
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NEU1
Sialidosis256550
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HBB
SICKLE CELL ANEMIA603903
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PHF8
SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME300263
  • Sanger-Sequenzierung
  • Deletionsscreening
SJOGREN-LARSSON SYNDROME270200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DHCR7
SMITH-LEMLI-OPITZ SYNDROME; SLOS270400
  • Sanger-Sequenzierung
  • Deletionsscreening
RAI1
SMITH-MAGENIS SYNDROME; SMS182290
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NFIX
NSD1
SOTOS SYNDROME117550
  • Sanger-Sequenzierung
  • Deletionsscreening
SACS
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE270550
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
NIPA1
Spastic Paraplagia 6 (SPG6)600363
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIF5A
Spastic Paraplegia 10604187
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Spastic Paraplegia 11604360
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RTN2
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT604805
  • Sanger-Sequenzierung
  • Deletionsscreening
HSPD1
Spastic Paraplegia 13605280
  • Sanger-Sequenzierung
  • Deletionsscreening
ZFYVE26
Spastic Paraplegia 15 (SPG15)270700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Spastic Paraplegia 21248900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATL1
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT182600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
REEP1
Spastic Paraplegia 31610250
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ZFVE27
Spastic Paraplegia 33 (SPG33)610244
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FA2H
SPASTIC PARAPLEGIA 35612319
  • Sanger-Sequenzierung
  • Deletionsscreening
PLPA6
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE612020
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATL1
SPAST
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4182601
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KIAA0196
Spastic Paraplegia 8 (SPG8)603563
  • Sanger-Sequenzierung
  • Deletionsscreening
FOXP1
FOXP2
Speech-language disorder 1602081
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
AZF
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CYP7B1
SPG5270800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
IGHMBP2
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1604320
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PLEKHG5
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4611067
  • Sanger-Sequenzierung
  • Deletionsscreening
DUX4
SMN1
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1253300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PDYN
SPINOCEREBELLAR ATAXIA 23610245
  • Sanger-Sequenzierung
  • Deletionsscreening
AFG3L2
SPINOCEREBELLAR ATAXIA 28610246
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
CACNA1A
SPINOCEREBELLAR ATAXIA 6; SCA6183086
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATXN8OS
Spinocerebellar ataxia 8608768
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SETX
SPINOCEREBELLAR ATAXIA RECESSIVE, NON-FRIEDREICH TYPE 1606002
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MESP2
Spondylocostal dysostosis autosomal recessive 2608681
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DLL3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1277300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
ABCA4
STARGARDT DISEASE 1; STGD1248200
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HSPG2
LIFR
Stüve-Wiedemann Syndrome601559
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BARD1
susceptibility to Breast cancer114480
  • Sanger-Sequenzierung
  • Deletionsscreening
  • Mutationsanalyse (DHPLC, SSCP, DGGE)
NOG
Symphalangism, proximal 185800
  • Sanger-Sequenzierung
  • Deletionsscreening
SNX14
syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction999999
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
DNASE1
SYSTEMIC LUPUS ERYTHEMATOSUS152700
  • Sanger-Sequenzierung
  • Deletionsscreening
RBM10
TARP syndrome311900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TAY-SACHS DISEASE; TSD272800
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ACVRL1
ENG
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT187300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
WNT3
Tetra-Amelia273395
  • Sanger-Sequenzierung
JAK2
THROMBOCYTHEMIA ESSENTIAL187950
  • Sanger-Sequenzierung
  • Deletionsscreening
RBM8A
Thrombozytopenia Absent Radius syndrome274000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SECISBP2
Thyroid hormone metabolism, abnormal609698
  • Sanger-Sequenzierung
  • Deletionsscreening
THRB
THYROID HORMONE RESISTANCE188570
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
MSX1
PAX9
TOOTH AGENESIS, SELECTIVE604625,100600
  • Sanger-Sequenzierung
  • Deletionsscreening
DYT1
TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1128100
  • Sanger-Sequenzierung
  • Deletionsscreening
SLITRK1
TOURETTE SYNDROME137580
  • Sanger-Sequenzierung
  • Deletionsscreening
FAM58A
SALL1
SALL4
TOWNES-BROCKS SYNDROME; TBS107480
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TCN2
Transcobalamin II deficiency275350
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TTR
TRANSTHYRETIN; TTR176300
  • Sanger-Sequenzierung
SKIV2L
TRICHOHEPATOENTERIC SYNDROME 2614602
  • Sanger-Sequenzierung
  • Deletionsscreening
MPLKIP
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1234050
  • Sanger-Sequenzierung
TSC1
TSC2
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
FAH
Tyrosinemia Type I276700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
WNT7A
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY276820
  • Sanger-Sequenzierung
  • quantitative PCR (realtime PCR)
TBX3
ULNAR-MAMMARY SYNDROME; UMS181450
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
HPSE2
LRIG2
Urofacial syndrome236730
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
CASQ2
RYANODINE RECEPTOR 2
TRDN
Ventricular Tachycardia Catechoaminergic Polymorpic 1 (2)604772, 611938
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
very long-chain acyl-CoA dehydrogenase deficiency201475
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EPG5
Vici syndrome242840
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
VDR
VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL277440
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
TTPA
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED277460
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
BEST1
CNNM4
Vitreoretinochoroidopathy and Microcornea, rod-cone dystrophy, cataract and posterior staphyloma193220
  • Sanger-Sequenzierung
  • Deletionsscreening
VHL
VON HIPPEL-LINDAU SYNDROME; VHL193300
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
SOX10
Waardenburg syndrome type 4613266
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
PAX3
WAARDENBURG SYNDROME, TYPE I; WS1193500
  • Sanger-Sequenzierung
  • Deletionsscreening
MITF
TYR
Waardenburg syndrome/ocular albinism (digenic)103470
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
POMGNT1
POMT1
POMT2
WALKER-WARBURG SYNDROME236670, 615041, 615249
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RAB18
RAB3GAP1
RAB3GAP2
Warburg Micro Syndrome600118
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
EZH2
Weaver syndrome277590
  • Sanger-Sequenzierung
  • Deletionsscreening
ADAMTS10
Weill-Marchesani Syndrome277600
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
RECQL2
WERNER SYNDROME; WRN277700
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
KMT2A
Wiedemann-Steiner syndrome605130
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
Elastin
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
ATP7B
WILSON DISEASE277900
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)
LIPA
WOLMAN DISEASE278000
  • Sanger-Sequenzierung
  • Deletionsscreening
  • quantitative PCR (realtime PCR)

Panels

Gen Name Kategorie Schlagworte/Indikation
ARHGAP31
DLL4
DOCK6
EOGT
RBPJ
Imported from Diagnostics
ADAR
ATRIP
RNASEH2A
RNASEH2B
RNASEH2C
... (6)
Imported from Diagnostics
GABR3
MEF2C
SLC9A6
SNRPN
Imported from Diagnostics
DES
DSC2
DSG2
DSP
JUP
... (7)
Imported from Diagnostics
MYH3
PIEZO2
TNNI2
TNNT3
TPM2
Imported from Diagnostics
ALMS1
BBS1
BBS10
BBS12
BBS2
... (10)
Imported from Diagnostics
BSND
CASR
CLCNKA
CLCNKB
KCNJ1
... (7)
Imported from Diagnostics
BRAF
KRAS
MAP2K1
MAP2K2
Imported from Diagnostics
ACTC1
LMNA
MYH7
PLN
TCAP
... (8)
Imported from Diagnostics
ACTC1
DES
MYBPC3
MYH7
PRKAG2
... (9)
Imported from Diagnostics
Cx32-GJB1
ECEL1
GARS
GDAP1
KIF1B
... (8)
Imported from Diagnostics
Cx32-GJB1
ECEL1
MFN1
MPZ
PMP22
Imported from Diagnostics
MLH1
MLH3
MSH2
MSH6
PIK3CA
... (6)
Imported from Diagnostics
HDAC8
NIPBL
RAD21
SMC1A
SMC3
Imported from Diagnostics
DGCR2
DGSI
TBX1
Imported from Diagnostics
CDKL5
CHD2
GABRG2
PNPO
SCN1A
... (9)
Imported from Diagnostics
DKC1
TERC
TERT
TINF2
Imported from Diagnostics
ED1
EDAR
EDARADD
WNT10A
Imported from Diagnostics
CHRNA2
CHRNA3
CHRNA4
CHRNA5
CHRNB2
... (6)
Imported from Diagnostics
CHRNE
CHRNG
COLQ
DOK7
RAPSN
Imported from Diagnostics
GABRD
GABRG2
SCN1A
SCN1B
SCN2A
Imported from Diagnostics
PHKA1
PHKA2
PHKB
PHKG2
Imported from Diagnostics
ABCC8
GCK
GLUD1
HNF4A
KCNJ11
Imported from Diagnostics
ABCA12
ALOX12B
ALOXE3
CYP4F22
NIPAL4
... (6)
Imported from Diagnostics
CHD7
FGF8
FGFR1
PROK2
PROKR2
Imported from Diagnostics
EHMT1
KMT2C
MBD5
NR1I3
SMARCB1
Imported from Diagnostics
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
Imported from Diagnostics
SMAD3
TGFB2
TGFB3
TGFBR1
TGFBR2
Imported from Diagnostics
AKAP9
ANK2
CACNA1C
CAV3
KCNJ2
... (10)
Imported from Diagnostics
ATM
BRCA1
BRCA2
BRIP1
CDH1
... (12)
Imported from Diagnostics
BCKDHA
BCKDHB
BCKDK
DBT
DLD
... (6)
Imported from Diagnostics
ACTA2
ADAMTSL4
FBN1
MYH11
MYLK
... (11)
Imported from Diagnostics
CEL
GCK
HNF1A
HNF1B
HNF4A
... (10)
Imported from Diagnostics
CDK5RAP2
CENPJ
MCPH1
STIL
WDR62
Imported from Diagnostics
CRYBA4
HCCS
PITX3
RAX
SIX6
... (7)
Imported from Diagnostics
AARS2
ADCK3
COQ2
COQ9
PDSS1
... (6)
Imported from Diagnostics
POLG
RRM2B
SUCLA2
TK2
Imported from Diagnostics
CHAT
CHRNB1
CHRNE
COLQ
MUSK
... (6)
Imported from Diagnostics
ACTA1
CFL2
NEB
TNNT1
TPM2
Imported from Diagnostics
BSCL2
Cx32-GJB1
DNM2
ECEL1
FIG4
... (25)
Imported from Diagnostics
BRAF
CBL
KRAS
NRAS
PTPN11
... (9)
Imported from Diagnostics
LEP
LEPR
MC3R
MC4R
POMC
... (6)
Imported from Diagnostics
KIF2A
KIF5C
LAMC3
TUBG
Imported from Diagnostics
KRT16
KRT17
KRT6A
KRT6B
Imported from Diagnostics
C19orf12
PANK2
PLA2G6
WDR45
Imported from Diagnostics
DJ1
LRRK2
PARK2
PINK1
SNCA
... (6)
Imported from Diagnostics
AN2
CYP1B1
FOXC1
PITX2
Imported from Diagnostics
HESX1
LHX3
PIT1
PROP1
Imported from Diagnostics
ATXN1
ATXN2
CACNA1A
ITPR1
SCA18
... (8)
Imported from Diagnostics
COL11A1
COL11A2
COL2A1
COl9a1
COL9A2
Imported from Diagnostics
AXIN2
MSX1
PAX9
PTH1R
WNT10A
Imported from Diagnostics
PEX1
PEX10
PEX12
PEX2
PEX26
... (7)
Imported from Diagnostics

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