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
SP7
Osteogenesis imperfecta type XI613849
  • Sanger-Sequenzierung
SERPINH1
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
Amyotrophic lateral sclerosis
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
BSND
CLCNKA
CLCNKB
KCNJ1
MAGED2
... (6)
Bartter syndrome
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ACTA1
CAV3
MYBPC3
MYH7
TNNI3
... (7)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ARID1A
ARID1B
PHF6
SMARCA2
SMARCA4
... (7)
Coffin-Siris syndrome
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
ANO5
B3GALNT2
B3GnT1
CAPN3
CAV3
... (24)
Congenital Muscular Dystrophy
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
keine Angaben
ACTA1
MEGF10
MYH7
SEPN1
Congenital myopathy(fiber-type disproportion); dominant
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ACTA2
ADAMTS2
AEBP1
B3GALT6
B4GALT7
... (47)
Connective tissue diseases including Marfan syndrome
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
Größe
25 kb
CHD7
CHN1
COL25A1
DCC
HOXA1
... (27)
Cranial dysinnervation disorders including Moebius syndrome
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
MYBPC1
MYH3
MYH8
PIEZO2
TNNI2
... (7)
Distal arthrogryposis
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
CHRNA1
CHRND
CHRNE
CHRNG
COLQ
... (8)
FETAL AKINESIA DEFORMATION SEQUENCE; FADS
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • After consultation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ADAMTS13
C3
CD46
CFB
CFH
... (9)
HEMOLYTIC-UREMIC SYNDROME; HUS
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
CLCN2
CUL3
CYP11B1
CYP11B2
CYP17A1
... (21)
Hereditary hypertension
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
Größe
keine Angaben
MAX
RET
SDH2
SDH5
SDHB
... (9)
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
A2ML1
AARS2
ACAD9
ACADVL
ACTA1
... (70)
Hypertrophic Cardiomyopathy (HCM) and Noonan Syndrome
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
AARS
AARS2
ABAT
ABCC8
ACY1
... (292)
Idiopathic and familial seizures
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
0.25 kb
AAAS
AADC
AARS
AARS2
AASS
... (2072)
Intellectual disability / mental retardation
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
0.25 kb
ABCD4
ACAT1
ACE
ACTN4
ADAMTS13
... (476)
Kidney disorders
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
  • DNA-Sequenzierung
Größe
0.25 kb
ANO5
CAPN3
CAV3
DNAJB6
DYSF
... (10)
Limb-Girdle Muscular Dystrophy
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
AGPAT2
AKT2
BANF1
BSCL2
CAV1
... (21)
Lipodystrophy
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
AKT2
CIDEC
LMNA
PLIN1
PPARG
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2; FPLD2
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
SMAD2
SMAD3
TGFB2
TGFBR1
TGFBR2
Loeys-Dietz syndrome
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
GCK
HNF1A
HNF1B
HNF4A
POMC
Maturity-onset diabetes of the young; MODY
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
AADC
AARS
ABCC9
ABCD1
ABCD4
... (866)
Mental Retardation - different panels
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
Größe
keine Angaben
SDH2
SDHAF1
SDHB
SDHC
SDHD
MITOCHONDRIAL COMPLEX II DEFICIENCE
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
CHRNA1
CHRND
CHRNE
CHRNG
COLQ
... (8)
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
CDKN1B
KIF1B
MAX
MEN1
NF1
... (13)
Neuroendocrine tumors including MEN
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
Größe
25 kb
AARS
ABCD1
ABHD12
ABHD5
ACAD9
... (523)
Neuromuscular Disorders
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
  • DNA-Sequenzierung
Größe
0.25 kb
A2ML1
BRAF
KRAS
LZTR1
MAP2K1
... (13)
Noonan-Syndrom - different panels
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
keine Angaben
ALPL
ANO5
BMP1
COL1A1
COL1A2
... (28)
Osteogenesis imperfecta and osteoporosis
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
Größe
25 kb
ALPL
ANO5
BMP1
COL1A1
COL1A2
... (23)
Osteogenesis imperfecta and Osteoporosis
Imported from Diagnostics
Spezifikation
Methode
  • NGS
Größe
keine Angaben
ABCA3
ARMC4
CCDC103
CCDC114
CCDC151
... (49)
Pediatric lung diseases
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
MAX
RET
SDHB
SDHC
SDHD
... (7)
PHEOCHROMOCYTOMA
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
DNAJB11
GANAB
PKD1
PKD2
POLYCYSTIC KIDNEY DISEASE
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
RARS2
SEPSECS
TSEN2
TSEN34
TSEN54
Pontocerebellar hypoplasia
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ASPM
CASC5
CDK5RAP2
CENPJ
CEP135
... (12)
Primary microcephaly, autosomal-recessive
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • NGS
Größe
keine Angaben
CUL3
KLHL3
NR3C2
WNK1
WNK4
Pseudohypoaldosteronism (autosomal dominant)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism, type II
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ACVRL1
AQP1
ATP13A3
BMP10
BMPR1B
... (24)
Pulmonary arterial hypertension
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
ACE
AGT
AGTR1
REN
renal tubular dysgenesis
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ATR
ATRIP
CDK5RAP2
CENPJ
CEP152
... (9)
Seckel Syndrome
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ABCA12
ABCC9
ACAN
ACD
ACOX1
... (814)
Skeletal diseases and dysplasias
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
0.25 kb
BICD2
IGHMBP2
SMN1
SMN2
TRPV4
... (6)
Spinale Muscular Atrophy
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
CFTR
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
DMD
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
GJB2
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
SMN1 (spinale Muskeldystrophie)
  • molecular genetics
INSTAND
40223 Düsseldorf
Deutschland
2020
Array-Diagnostik
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2019
CF
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2019
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
DMD
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
DNA Sequencing (NGS v Germline)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
Osteogenesis imperfecta
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
SMA
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2019
ADPKD
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
Array-Diagnostik
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2018
CF network
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2018
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
DMD
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
DNA Sequencing-Sanger (Full version)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
NextGen DNA Sequencing (vGermline)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
SMA
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2018
ADPKD Polyz. Nierenerkrankung
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
ArrayDiagnostik
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2017
CFTR
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2017
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
DMD
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
DNA-SEQ (Full)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
OI (Osteogenesis imperfecta)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
SMA
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2017
Array-Diagnostik
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2016
CFTR
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2016
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
DNA Sequencing - Sanger (Full version)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
OI
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
SMA
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2016
aCGH/Microarray
  • molecular cytogenetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
CFTR
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2015
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
DNA-SEQ (Full)
  • Methodical-technical
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
OI (Osteogenesis imperfecta)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
SMA
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2015
aCGH/Microarray
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
CF Network CFTR
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2014
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
EMQN: DNA Sequencing (Sanger)
  • molecular genetics
  • Methodical-technical
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
Osteogenesis imperfecta (OI)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
SMA
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2014
Microarray aCGH
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2013
CF
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2012
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
DNA sequencing
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
Microarray aCGH
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
osteogenesis imperfecta (OI)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
SMA-Spinal Muscular Atrophy
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2012
Array CGH
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
CF
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2011
DFNB1
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
DNA sequencing
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
SMA (Spinal Muscular Atrophy)
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2011
Cystic Fibrosis (CF)
  • molecular genetics
CF European Network
3000 Leuven
Belgien
2010
DNA Sequencing
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
Hereditary deafness
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010
Spinal Muscular Atrophy
  • molecular genetics
EMQN
M13 9WL Manchester
Vereinigtes Königreich
2010