Einrichtung

Institut für Humangenetik

Pauwelsstr. 30
52074 Aachen
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. med. Ingo Kurth

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 07.01.2014
Akkreditierende Organisation: DAkkS
Beschreibung: Akkreditiert nach DIN EN ISO 15189:2013

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

  • Dr. Herdit Schüler | Tel:0241-808 0178 | Fax:0241-808 2580
    Diplom-Biologin, Fachhumangenetikerin

Zytogenetik

  • Dr. Herdit Schüler | Tel:0241-808 0178 | Fax:0241-808 2580
    Diplom-Biologin, Fachhumangenetikerin

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
TTR
Amyloidosis, hereditary, transthyretin-related105210
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
SNRPN
ANGELMAN SYNDROME; AS105830
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse
MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2609260
  • Sanger-Sequenzierung
Cx32-GJB1
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B118200
  • Sanger-Sequenzierung
LITAF
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C601098
  • Sanger-Sequenzierung
FGD4
GDAP1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A214400
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
  • Sanger-Sequenzierung
CMT4C
KIAA1985
Charcot-Marie-Tooth Neuropathy Type 4C601596
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
UMOD
cystic kidney disease, autosomal dominant medullary, type 2603860
  • Sanger-Sequenzierung
SLC3A1
SLC7A9
CYSTINURIA; CSNU220100
  • Sanger-Sequenzierung
DES
DESMINOPATHY, PRIMARY601419
  • Sanger-Sequenzierung
PLAGL1
ZFP57
DIABETES MELLITUS, TRANSIENT NEONATAL601410
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse
DMPK
DYSTROPHIA MYOTONICA 1160900
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
CNBP
DYSTROPHIA MYOTONICA 2; DM2602668
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
LMNA
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2181350
  • Sanger-Sequenzierung
FABRY DISEASE301500
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
BRCA1
BRCA2
Familial Breast-Ovarian Cancer, Susceptibility to 1 (BRCA1)604370
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • PCR-Analyse
  • Southern-Blot
NTRK1
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA256800
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
MYOT
Limb girdle muscular dystrophy type 1A159000
  • Sanger-Sequenzierung
SIL1
Marinesco-Sjogren Syndrome248800
  • Sanger-Sequenzierung
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
LMNA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B159001
  • Sanger-Sequenzierung
INVS
NEPHRONOPHTHISIS 2; NPHP2602088
  • Sanger-Sequenzierung
  • PCR-Analyse
  • Mikrosatellitenanalyse
NPHP3
NEPHRONOPHTHISIS 3; NPHP3604387
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
SCN11A
Neuropathie, hereditär118300, 613287, 162500, 6
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
Neuropathy, Hereditary Sensory and Autonomic, Type 2201300, 613115, 614213
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
IKBKAP
Neuropathy, Hereditary Sensory and Autonomic, Type 3223900
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
NGF
Neuropathy, Hereditary Sensory and Autonomic, Type 5608654
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
PKD2
POLYCYSTIC KIDNEY DISEASE173910, 173900, 263200, 6
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
PKD1
POLYCYSTIC KIDNEY DISEASE 1; PKD1601313
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
PKHD1
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD263200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
PWCR
SNRPN
PRADER-WILLI SYNDROME; PWS176270
  • MLPA (Multiple Ligation-dependent Probe Amplification
HNF1B
renal cysts and Diabetes syndromes/HNF1beta-associated diseases189907
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SHOX
Short stature, idiopathic familial, SHOX300582
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
IGHMBP2
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1604320
  • Sanger-Sequenzierung
  • Mikrosatellitenanalyse
SMN1
SMN2
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1253300
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
SMN1
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2253550
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
SMN1
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3253400
  • Sanger-Sequenzierung
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
  • Deletionsscreening
MEG3
Uniparental disomy of chromosome 14
  • CGH (Comparative Genome Hybridisation)
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Methylierung
  • Mikrosatellitenanalyse

Panels

Gen Name Kategorie Schlagworte/Indikation
ALS2
ANG
C21ORF2
C9ORF72
CCNF
... (29)
Amyotrophic lateral sclerosis
Imported from Diagnostics
BBS1
BBS10
BBS12
BBS2
BBS4
... (12)
Bardet-Biedl syndrome
Imported from Diagnostics
BWCR
BWSCR1A
CDKN1C
H19
ICR1
... (7)
BECKWITH-WIEDEMANN SYNDROME; BWS
Imported from Diagnostics
Cx32-GJB1
ECEL1
GDAP1
LMNA
MPZ
... (8)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1
Imported from Diagnostics
Cx32-GJB1
ECEL1
LITAF
MPZ
NEFL
... (6)
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A
Imported from Diagnostics
AARS
ABHD12
AIFM1
ARHGEF10
BSCL2
... (64)
Hereditary Neuropathies Multi-gene panel NGS
Imported from Diagnostics
ATL1
ATL3
DNMT1
RAB7
SPTLC1
... (6)
Hereditary Sensory Neuropathy Type 1
Imported from Diagnostics
ACP33
AMPD2
AP4B1
AP4E1
AP4M1
... (53)
Hereditary Spastic Paraplegia (HSP; SPG)
Imported from Diagnostics
Cx32-GJB1
ECEL1
GDAP1
MPZ
PMP22
... (6)
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
Imported from Diagnostics
ACTA1
BAG3
BIN1
C10ORF2
CASQ1
... (48)
INCLUSION BODY MYOPATHY
Imported from Diagnostics
AHI1
ARL13B
CC2D2A
CEP290
INPP5E
... (7)
Joubert Syndrome
Imported from Diagnostics
CC2D2A
CEP290
MKS1
MKS2
MKS3
... (8)
Meckel-Gruber Syndrome
Imported from Diagnostics
AAAS
AARS
ABHD12
ACP33
ACTA1
... (278)
Neuromuscular Panel
Imported from Diagnostics
AAAS
ARL6IP1
ATL1
ATL3
CLTCL1
... (28)
Panel: Hereditary sensory and autonomic neuropathy
Imported from Diagnostics
ANO5
B3GnT1
BVES
CAPN3
CAV3
... (42)
Panel: Muscular dystrophy/ Limb-girdle muscular dystrophy
Imported from Diagnostics
ASAH1
ATP7A
BICD2
BSCL2
CHCHD10
... (21)
Panel: Spinal and bulbar muscular atrophy
Imported from Diagnostics
ACE
AGTR1
AHI1
ALDH1A2
ARL13B
... (94)
Renal Diseases - different panels
Renal Diseases
ACE
AGT
AGTR1
REN
renal tubular dysgenesis
Imported from Diagnostics
CDKN1C
GRB10
H19
ICR1
MEST
SILVER-RUSSELL SYNDROME
Imported from Diagnostics

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
fra(X)-Syndrom
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008