Einrichtung

Institute of Human Genetics

Kerpener Str. 34
50931 Köln
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. rer. nat. Brunhilde Wirth

Kategorisierung

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

Zertifizierung

Zertifiziert seit: 08.07.2016
Zertifizierende Organisation: TÜV SÜD Management Service GmbH
Beschreibung: TÜV zertifiziert für den Geltungsbereich Humangenetische Beratung, Probengewinnung, Erstellung von molekulargenetischen Gutachten und Beratungsbriefen.

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
FGFR3
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY202010
  • Sanger-Sequenzierung
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY202110
  • Sanger-Sequenzierung
POLG
ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS203700
  • Sanger-Sequenzierung
COL4A3
COL4A4
ALPORT SYNDROME, AUTOSOMAL RECESSIVE203780
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL4A5
ALPORT SYNDROME, X-LINKED; ATS301050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TTR
Amyloidosis, hereditary, transthyretin-related105210
  • Sanger-Sequenzierung
AN2
ANIRIDIA, TYPE II; AN2106210
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SLC12A1
Antenatal Bartter syndrome type 1601678
  • Sanger-Sequenzierung
KCNJ1
Antenatal Bartter syndrome type 2241200
  • Sanger-Sequenzierung
MAGED2
Antenatal transient Bartter syndrome300971
  • Sanger-Sequenzierung
FGFR2
ANTLEY-BIXLER SYNDROME; ABS207410
  • Sanger-Sequenzierung
MYH11
Aortic aneurysm, familial thoracic 4, AAT4132900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ACTA2
Aortic aneurysm, familial thoracic 6, AAT6611788
  • Sanger-Sequenzierung
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7613780
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FGFR2
APERT SYNDROME101200
  • Sanger-Sequenzierung
FGF10
Aplasia of lacrimal and salivary glands602115
  • Sanger-Sequenzierung
MRE11A
ATAXIA-TELANGIECTASIA; AT208900
  • Sanger-Sequenzierung
SCNN1A
SCNN1B
SCNN1G
autosomal recessive Pseudohypoaldosteronism264350
  • Sanger-Sequenzierung
BBS10
Bardet-Biedl syndrome209900
  • Sanger-Sequenzierung
FGFR2
Beare-Stevenson cutis gyrata syndrome123790
  • Sanger-Sequenzierung
COL6A1
COL6A2
COL6A3
Bethlem Myopathy158810
  • Sanger-Sequenzierung
FLCN
BIRT-HOGG-DUBE SYNDROME135150
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FKBP10
PLOD2
Bruck syndrome609220
  • Sanger-Sequenzierung
CLCNKB
Classic Bartter syndrome607364
  • Sanger-Sequenzierung
COQ2
Coenzyme Q10 deficiency, primary, 1607426
  • Sanger-Sequenzierung
PDSS2
Coenzyme Q10 deficiency, primary, 3; COQ10D3614652
  • Sanger-Sequenzierung
COQ6
Coenzyme Q10 deficiency, primary, 6614650
  • Sanger-Sequenzierung
LEPRE1
P4HB
SEC24D
Cole-Carpenter Syndrome; CLCRP1, CLCRP2112240
  • Sanger-Sequenzierung
RMND1
Combined oxidative phosphorylation deficiency 11614922
  • Sanger-Sequenzierung
NIPBL
CORNELIA DE LANGE SYNDROME; CDLS122470
  • MLPA (Multiple Ligation-dependent Probe Amplification
CYP11B2
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY203400
  • Sanger-Sequenzierung
CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY218030
  • Sanger-Sequenzierung
SDHB
SDHD
COWDEN DISEASE; CD158350
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SEC23A
Craniolenticulosutural dysplasia607812
  • Sanger-Sequenzierung
ERF
Craniosynostosis 4600775
  • Sanger-Sequenzierung
IL11RA
Craniosynostosis and dental anomalies614188
  • Sanger-Sequenzierung
TWIST1
Craniosynostosis, type 1123100
  • Sanger-Sequenzierung
FGFR2
FGFR3
CROUZON SYNDROME123500
  • Sanger-Sequenzierung
CFTR
CYSTIC FIBROSIS; CF219700
  • Multiplex-PCR
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
UMOD
cystic kidney disease, autosomal dominant medullary, type 2603860
  • Sanger-Sequenzierung
CTNS
Cystinosis, nephropathic219800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SLC3A1
SLC7A9
CYSTINURIA; CSNU220100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GJB2
GJB6
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MTRNR1
Deafness, nonsyndromic sensorineural, mitochondrial500008
  • Sanger-Sequenzierung
CLCN5
DENT DISEASE300009
  • Sanger-Sequenzierung
AQP2
AVPR2
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT125800
  • Sanger-Sequenzierung
AQP2
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE222000
  • Sanger-Sequenzierung
AVPR2
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED304800
  • Sanger-Sequenzierung
AVP
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE125700
  • Sanger-Sequenzierung
HNF1B
DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM125853
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL3A1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT130050
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COLQ
Endplate acetylcholinesterase deficiency603034
  • Sanger-Sequenzierung
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11613721
  • Sanger-Sequenzierung
MYH9
EPSTEIN SYNDROME153650
  • Sanger-Sequenzierung
MYH9
Epstein/Fechner syndrome153650
  • Sanger-Sequenzierung
MYH9
Fechtner syndrome153640
  • Sanger-Sequenzierung
ACTN4
Focal segmental glomerulosclerosis 1; FSGS1603278
  • Sanger-Sequenzierung
TRPC6
Focal segmental glomerulosclerosis 2603965
  • Sanger-Sequenzierung
CD2AP
Focal segmental glomerulosclerosis 3; FSGS3607832
  • Sanger-Sequenzierung
CRB2
Focal segmental glomerulosclerosis 9616220
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APOL1
Focal segmental glomerulosclerosis-4612551
  • Sanger-Sequenzierung
FH
FUMARASE DEFICIENCY606812
  • Sanger-Sequenzierung
OSGEP
WDR73
Galloway-Mowat syndrome251300, 617729
  • Sanger-Sequenzierung
SLC12A3
GITELMAN SYNDROME263800
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
INF2
Glomerulosclerosis, focal segmental, 5613237
  • Sanger-Sequenzierung
MYO1E
Hereditary FSGS type 6614131
  • Sanger-Sequenzierung
CBS
HOMOCYSTINURIA DUE TO CBS DEFICIENCY236200
  • Sanger-Sequenzierung
CYP11B1
CYP11B2
HYPERALDOSTERONISM, FAMILIAL, TYPE I103900
  • Sanger-Sequenzierung
  • PCR-Analyse
CLCN2
Hyperaldosteronism, familial, type II605635
  • Sanger-Sequenzierung
KCNJ5
Hyperaldosteronism, familial, type II613677
  • Sanger-Sequenzierung
CYP24A1
SLC34A1
Hypercalcemia, infantile143880
  • Sanger-Sequenzierung
GRHPR
Hyperoxaluria type II260000
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
AGXT
Hyperoxaluria, primary, type I259900
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DHDPSL (HOGA1)
Hyperoxaluria, primary, type III613616
  • Sanger-Sequenzierung
CASR
HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY; NSHPT239200
  • Sanger-Sequenzierung
REN
Hyperuricemic nephropathy, familial juvenile 2613092
  • Sanger-Sequenzierung
CASR
GNA11
HYPOCALCEMIA, AUTOSOMAL DOMINANT601198
  • Sanger-Sequenzierung
AP2S1
CASR
GNA11
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 (sowie Typ III; HHC3)145980, 600740
  • Sanger-Sequenzierung
FGFR3
HYPOCHONDROPLASIA; HCH146000
  • Sanger-Sequenzierung
CLDN19
Hypomagnesemia with ocular involvement248190
  • Sanger-Sequenzierung
CLDN16
HYPOMAGNESEMIA, PRIMARY248250
  • Sanger-Sequenzierung
ALPL
HYPOPHOSPHATASIA, ADULT TYPE146300
  • Sanger-Sequenzierung
ALPL
Hypophosphatasia, childhood, infantile241510
  • Sanger-Sequenzierung
HPRT1
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1308000
  • Sanger-Sequenzierung
SMARCAL1
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE242900
  • Sanger-Sequenzierung
FAN1
Interstitial Nephritis614817
  • Sanger-Sequenzierung
FGFR1
JACKSON-WEISS SYNDROME; JWS123150
  • Sanger-Sequenzierung
KDM6A
KMT2D
Kabuki syndrome147920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FGFR1
Kallmann Syndrome 2147950
  • Sanger-Sequenzierung
FGF10
FGFR2
FGFR3
Lacrimoauriculodentodigital syndrome149730
  • Sanger-Sequenzierung
NR3C2
SCNN1B
SCNN1G
LIDDLE SYNDROME177200
  • Sanger-Sequenzierung
LIG4
XRCC4
LIG4 SYNDROME606593
  • Sanger-Sequenzierung
TGFBR2
Loesys-Dietz syndrome, type 1B610168
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TGFBR2
LOEYS-DIETZ SYNDROME, TYPE 2B; LDS2B610380
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
KCNJ5
Long QT syndrome 13; LQT13613485
  • Sanger-Sequenzierung
FBN1
TGFBR1
TGFBR2
MARFAN SYNDROME; MFS154700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HNF1B
Maturity Onset Diabetes of the Young Type V137920
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
HNF4A
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE I; MODY1125850
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CASK
Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia300749
  • Sanger-Sequenzierung
MMACHC
MMADHC
Methylmalonic aciduria and homocystinuria cblC type277400
  • Sanger-Sequenzierung
PCNT
RNU4ATAC
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM Type 1 and 2210710, 210720
  • Sanger-Sequenzierung
GPHN
MOCS1
MOCS2
MOLYBDENUM COFACTOR DEFICIENCY252150
  • Sanger-Sequenzierung
FGFR3
MUENKE SYNDROME602849
  • Sanger-Sequenzierung
Multiple cutaneous and uterine myomata 1150800
  • Sanger-Sequenzierung
CDKN1B
MULTIPLE ENDOCRINE NEOPLASIA TYPE IV610755
  • Sanger-Sequenzierung
MEN1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1131100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2A171400
  • Sanger-Sequenzierung
RET
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B162300
  • Sanger-Sequenzierung
DMD
MUSCULAR DYSTROPHY, BECKER TYPE; BMD300376
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
LMX1B
NAIL-PATELLA SYNDROME; NPS161200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
ACTA1
TPM2
Nemaline Myopathy161650, 615731
  • Sanger-Sequenzierung
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286
  • Sanger-Sequenzierung
NPHP1
NEPHRONOPHTHISIS 1; NPHP1256100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
INVS
NEPHRONOPHTHISIS 2; NPHP2602088
  • Sanger-Sequenzierung
NPHP3
NEPHRONOPHTHISIS 3; NPHP3604387
  • Sanger-Sequenzierung
NPHS1
NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1256300
  • Sanger-Sequenzierung
ARHGDIA
Nephrotic syndrome type 8615244
  • Sanger-Sequenzierung
WT1
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS256370
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NPHS2
Nephrotic syndrome, steroid-resistant, autosomal recessive; SRN1600995
  • Sanger-Sequenzierung
PLCE1
NEPHROTIC SYNDROME, TYPE 3; NPHS3610725
  • Sanger-Sequenzierung
LAMB2
Nephrotic syndrome, type 5, with or without ocular abnormalities614199
  • Sanger-Sequenzierung
PTPRO
Nephrotic syndrome, type 6614196
  • Sanger-Sequenzierung
DGKE
Nephrotic syndrome, type 7615008
  • Sanger-Sequenzierung
ADCK4
Nephrotic syndrome, type 9615573
  • Sanger-Sequenzierung
SMARCA2
Nicolaides-Braritser Syndrome601358
  • Sanger-Sequenzierung
NBN
NIJMEGEN BREAKAGE SYNDROME251260
  • Sanger-Sequenzierung
RAD50
NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD613078
  • Sanger-Sequenzierung
FLCN
VHL
Nonpapillary renal cell carcinoma144700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PTPN11
RIT1
NOONAN SYNDROME 1; NS1163950
  • 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
PPIB
Osteogenesis imperfecta 9259440
  • Sanger-Sequenzierung
CRTAP
Osteogenesis imperfecta Typ VII610682
  • Sanger-Sequenzierung
LEPRE1
Osteogenesis imperfecta Typ VIII610915
  • Sanger-Sequenzierung
FKBP10
Osteogenesis imperfecta type VI610968
  • Sanger-Sequenzierung
SERPINH1
Osteogenesis imperfecta type XI613849
  • Sanger-Sequenzierung
SP7
Osteogenesis imperfecta type XI613849
  • Sanger-Sequenzierung
SERPINF1
Osteogenesis imperfecta type XII; OI12613982
  • Sanger-Sequenzierung
COL1A1
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE I166200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
IFITM5
Osteogenesis imperfecta, type V610967
  • Sanger-Sequenzierung
BMP1
Osteogenesis imperfecta, type XIII614856
  • Sanger-Sequenzierung
TMEM38B
Osteogenesis imperfecta, type XIV615066
  • Sanger-Sequenzierung
WNT1
Osteogenesis imperfecta, type XV615220
  • Sanger-Sequenzierung
FGFR1
OSTEOGLOPHONIC DYSPLASIA166250
  • Sanger-Sequenzierung
LRP5
Osteopetrosis, autosomal dominant Type 1607634
  • Sanger-Sequenzierung
PLS3
Osteoporosis300910
  • Sanger-Sequenzierung
LRP5
Osteoporosis-pseudoglioma syndrome 259770
  • Sanger-Sequenzierung
PRSS1
PANCREATITIS, HEREDITARY; PCTT167800
  • Sanger-Sequenzierung
PAX2
PAPILLORENAL SYNDROME120330
  • Sanger-Sequenzierung
SLC26A4
PENDRED SYNDROME; PDS274600
  • Sanger-Sequenzierung
DIS3L2
Perlman syndrome267000
  • Sanger-Sequenzierung
FGFR1
FGFR2
PFEIFFER SYNDROME101600
  • Sanger-Sequenzierung
LAMB2
Pierson Syndrome609049
  • Sanger-Sequenzierung
AIP
Pituitary adenoma, growth hormone-secreting102200
  • Sanger-Sequenzierung
DICER1
Pleuropulmonary blastoma601200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
NPHS2
PODOCIN; NPHS2604766
  • Sanger-Sequenzierung
DZIP1L
PKHD1
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD263200
  • Sanger-Sequenzierung
ALAD
Porphyria, acute hepatic612740
  • Sanger-Sequenzierung
POMC
PROOPIOMELANO-CORTIN DEFICIENCY609734
  • Sanger-Sequenzierung
CUL3
Pseudohypoaldosteronism, type IIE614496
  • Sanger-Sequenzierung
PAX2
RET
Renal adysplasia191830
  • Sanger-Sequenzierung
MET
RENAL CELL CARCINOMA, PAPILLARY605074
  • Sanger-Sequenzierung
HNF1B
renal cysts and Diabetes syndromes/HNF1beta-associated diseases189907
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
BRAT1
Rigidity and multifocal seizure syndrome, lethal neonatal; RMFSL614498
  • Sanger-Sequenzierung
TWIST1
SAETHRE-CHOTZEN SYNDROME; SCS101400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
MAGEL2
Schaaf-Yang syndrome615547
  • Sanger-Sequenzierung
KCNJ10
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome612780
  • Sanger-Sequenzierung
NHEJ1
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION611291
  • Sanger-Sequenzierung
IGHMBP2
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1604320
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TRPV4
Spinal muscular atrophy, distal, congenital nonprogressive; Type VIII (HMN8)600175
  • Sanger-Sequenzierung
BICD2
Spinal muscular atrophy, lower extremity-predominant, 2, AD615290
  • Sanger-Sequenzierung
SMN1
SMN2
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1253300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
SMN1
SMN2
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2253550
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
SMN1
SMN2
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3253400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
UBA1
Spinal muscular atrophy, x-linked 2; SMAX2301830
  • Sanger-Sequenzierung
SUOX
Sulfite oxidase deficiency272300
  • Sanger-Sequenzierung
FGFR3
Thanatophoric dysplasia, type II187601
  • Sanger-Sequenzierung
FGFR3
THANATOPHORIC DYSPLASIA; TD187600
  • Sanger-Sequenzierung
ADAMTS13
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP274150
  • Sanger-Sequenzierung
RET
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC155240
  • Sanger-Sequenzierung
FGFR1
Trigonocephaly190440
  • Sanger-Sequenzierung
TSC2
TSC2 GENE; TSC2191092
  • Sanger-Sequenzierung
TSC1
TSC2
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
COL6A1
COL6A2
COL6A3
Ullrich congenital muscular dystrophy UCMD254090
  • Sanger-Sequenzierung
VHL
VON HIPPEL-LINDAU SYNDROME; VHL193300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
AN2
WT1
WAGR SYNDROME194072
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
BUB1B
TRIP13
WT1
WILMS TUMOR 1; WT1194070
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification

Panels

Gen Name Kategorie Schlagworte/Indikation
ALS2
FUS
SOD1
TARDB/TDP-43
VABP
Imported from Diagnostics
BSND
CLCNKA
CLCNKB
KCNJ1
MAGED2
... (6)
Imported from Diagnostics
ACTA1
CAV3
MYBPC3
MYH7
TNNI3
... (7)
Imported from Diagnostics
ARID1A
ARID1B
PHF6
SMARCA2
SMARCA4
... (7)
Imported from Diagnostics
ANO5
B3GALNT2
B3GnT1
CAPN3
CAV3
... (24)
Imported from Diagnostics
ACTA1
MEGF10
MYH7
SEPN1
Imported from Diagnostics
ACTA2
ADAMTS2
AEBP1
B3GALT6
B4GALT7
... (47)
Multi gene panel
CHD7
CHN1
COL25A1
DCC
HOXA1
... (27)
Multi gene panel
MYBPC1
MYH3
MYH8
PIEZO2
TNNI2
... (7)
Imported from Diagnostics
CHRNA1
CHRND
CHRNE
CHRNG
COLQ
... (8)
Imported from Diagnostics
ADAMTS13
C3
CD46
CFB
CFH
... (9)
Imported from Diagnostics
CLCN2
CUL3
CYP11B1
CYP11B2
CYP17A1
... (21)
Imported from Diagnostics
MAX
RET
SDH2
SDH5
SDHB
... (9)
Imported from Diagnostics
A2ML1
AARS2
ACAD9
ACADVL
ACTA1
... (69)
Imported from Diagnostics
A2ML1
AARS2
ACAD9
ACADVL
ACTA1
... (70)
Multi gene panel
AARS
AARS2
ABAT
ABCC8
ACY1
... (200)
Multi gene panel
AARS
AARS2
ABAT
ABCC8
ACY1
... (292)
Multi gene panel
AAAS
AARS
AARS2
AASS
ABAT
... (321)
Multi gene panel
AAAS
AADC
AARS
AARS2
AASS
... (2072)
Multi gene panel
ABCD4
ACAT1
ACE
ACTN4
ADAMTS13
... (406)
Imported from Diagnostics
ABCD4
ACAT1
ACE
ACTN4
ADAMTS13
... (324)
Multi gene panel
ABCD4
ACAT1
ACE
ACTN4
ADAMTS13
... (476)
Multi gene panel
ANO5
CAPN3
CAV3
DNAJB6
DYSF
... (10)
Imported from Diagnostics
AGPAT2
AKT2
BANF1
BSCL2
CAV1
... (21)
Multi gene panel
AGPAT2
AKT2
BANF1
BSCL2
CAV1
... (19)
Imported from Diagnostics
AKT2
CIDEC
LMNA
PLIN1
PPARG
Imported from Diagnostics
SMAD2
SMAD3
TGFB2
TGFBR1
TGFBR2
Imported from Diagnostics
ACTA2
ADAMTS2
B3GALT6
B4GALT7
C1R
... (42)
Imported from Diagnostics
GCK
HNF1A
HNF1B
HNF4A
POMC
Imported from Diagnostics
AADC
AARS
ABCC9
ABCD1
ABCD4
... (866)
Imported from Diagnostics
SDH2
SDHAF1
SDHB
SDHC
SDHD
Imported from Diagnostics
CHRNA1
CHRND
CHRNE
CHRNG
COLQ
... (8)
Imported from Diagnostics
CDKN1B
KIF1B
MAX
MEN1
NF1
... (13)
Multi gene panel
AARS
ABCD1
ABHD12
ABHD5
ACAD9
... (303)
Multi gene panel
AARS
ABCD1
ABHD12
ABHD5
ACAD9
... (523)
Multi gene panel
AARS
ABCD1
ABHD12
ABHD5
ACADVL
... (460)
Imported from Diagnostics
A2ML1
BRAF
KRAS
LZTR1
MAP2K1
... (13)
Imported from Diagnostics
ALPL
ANO5
BMP1
COL1A1
COL1A2
... (28)
Multi gene panel
ALPL
ANO5
BMP1
COL1A1
COL1A2
... (23)
Imported from Diagnostics
ABCA3
ARMC4
CCDC103
CCDC114
CCDC151
... (49)
Multi gene panel
MAX
RET
SDHB
SDHC
SDHD
... (7)
Imported from Diagnostics
DNAJB11
GANAB
PKD1
PKD2
Imported from Diagnostics
RARS2
SEPSECS
TSEN2
TSEN34
TSEN54
Imported from Diagnostics
ASPM
CASC5
CDK5RAP2
CENPJ
CEP135
... (12)
Imported from Diagnostics
CUL3
KLHL3
NR3C2
WNK1
WNK4
Imported from Diagnostics
CUL3
KLHL3
WNK1
WNK4
Imported from Diagnostics
ACVRL1
AQP1
ATP13A3
BMP10
BMPR1B
... (24)
Multi gene panel
ACE
AGT
AGTR1
REN
Imported from Diagnostics
ATR
ATRIP
CDK5RAP2
CENPJ
CEP152
... (9)
Imported from Diagnostics
ABCA12
ABCC9
ACAN
ACD
ACOX1
... (317)
Multi gene panel
ABCA12
ABCC9
ACAN
ACD
ACOX1
... (814)
Multi gene panel
BICD2
IGHMBP2
SMN1
SMN2
TRPV4
... (6)
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2019
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2018
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2017
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2017
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2016
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
  • molecular cytogenetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2015
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • Methodical-technical
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2014
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
  • molecular genetics
  • Methodical-technical
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2013
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2012
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2011
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010