Einrichtung

institute of human genetics

Im Neuenheimer Feld 366
69120 Heidelberg
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. Christan Schaaf

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 20.04.2007
Akkreditierende Organisation: DACH
Beschreibung: Cytogenetik, Molekulare Cytogenetik, Molekulargenetik
Datum der letzten Reakkreditierung: 19.04.2022
Reakkreditiert von: DAkkS - Deutsche Akkreditierungsstelle GmbH

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Hauptkontakt des Instituts

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

  • Dr. med. Karin Burau | Tel:06221/5639571 | Fax:06221/565091
    Leiterin des cytogenetischen Diagnostiklabors, Fachärztin für Humangenetik

Tumorzytogenetik

  • Prof. Dr. sc. hum. Anna Jauch | Tel:06221-565407 | Fax:06221-565091
    Leiterin des molekularcytogenetischen Diagnostiklabors, Fachhumangenetikerin
  • Dr. med. Karin Burau | Tel:06221/5639571 | Fax:06221/565091
    Leiterin des cytogenetischen Diagnostiklabors, Fachärztin für Humangenetik

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode
AUH
3-@METHYLGLUTACONIC ACIDURIA, TYPE I250950
  • Sanger-Sequenzierung
ACADM
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF201450
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APC
MUTYH
ADENOMATOUS POLYPOSIS OF THE COLON; APC175100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CYP21
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY201910, 202110
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
APOA1
FGA
AMYLOIDOSIS, FAMILIAL VISCERAL105200
  • Sanger-Sequenzierung
SNRPN
ANGELMAN SYNDROME; AS105830
  • Single copy FISH (eigene Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
AN2
ANIRIDIA, TYPE II; AN2106210
  • Single copy FISH (eigene Sonden)
MUT
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY608643
  • Sanger-Sequenzierung
MUTYH
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE608456
  • Sanger-Sequenzierung
MLH1
MSH2
MSH6
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2609310
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
CRI-DU-CHAT SYNDROME123450
  • Single copy FISH (kommerzielle Sonden)
CFTR
CYSTIC FIBROSIS; CF219700
  • Multiplex-PCR
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TUPLE 1
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (kommerzielle Sonden)
DPYD
DIHYDROPYRIMIDINE DEHYDROGENASE; DPYD274270
  • quantitative PCR (realtime PCR)
GCH1
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION128230
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
GLA
FABRY DISEASE301500
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • PCR-Analyse
  • Triplett-Repeat-Expansion
GCDH
GLUTARIC ACIDEMIA I231670
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CBS
HOMOCYSTINURIA DUE TO CBS DEFICIENCY236200
  • Sanger-Sequenzierung
HD
HUNTINGTON DISEASE; HD143100
  • PCR-Analyse
  • Triplett-Repeat-Expansion
HADHA
HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA600890
  • Sanger-Sequenzierung
PTS
Hyperphenylalaninemia, BH4-deficient A261640
  • Sanger-Sequenzierung
QDPR
Hyperphenylalaninemia, BH4-deficient C261630
  • Sanger-Sequenzierung
Hyperphenylalaninemia, mild, non-BH4-deficient; HPANBH4617384
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
STS
ICHTHYOSIS, X-LINKED308100
  • Single copy FISH (kommerzielle Sonden)
KALLMANN SYNDROME 1; KAL1308700
  • Single copy FISH (kommerzielle Sonden)
SHOX
LERI-WEILL DYSCHONDROSTEOSIS; LWD127300
  • Single copy FISH (eigene Sonden)
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
MUT
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY251000
  • Sanger-Sequenzierung
LIS 1
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • Single copy FISH (kommerzielle Sonden)
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
  • Mikrosatellitenanalyse
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
OTC
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO311250
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PLP1
PELIZAEUS-MERZBACHER DISEASE; PMD312080
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PAH
PHENYLKETONURIA261600
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SNRPN
PRADER-WILLI SYNDROME; PWS176270
  • Single copy FISH (eigene Sonden)
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Mikrosatellitenanalyse
RB1
RETINOBLASTOMA; RB1180200
  • Single copy FISH (kommerzielle Sonden)
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CREBBP
RUBINSTEIN-TAYBI SYNDROME; RSTS180849
  • Single copy FISH (eigene Sonden)
TH
Segawa syndrome, autosomal recessive 605407
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SPR
Sepiapterin Reductase Deficiency182125
  • Sanger-Sequenzierung
SHOX
SHORT STATURE HOMEOBOX; SHOX312865
  • Single copy FISH (eigene Sonden)
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
DHCR7
SMITH-LEMLI-OPITZ SYNDROME; SLOS270400
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
SMCR
SMITH-MAGENIS SYNDROME; SMS182290
  • Single copy FISH (kommerzielle Sonden)
DAZ
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
  • Multiplex-PCR
SMN1
SMN2
Spinale Muscular Atrophy253300, 253550
  • Fragmentanalyse
  • PCR-Analyse
  • MLPA (Multiple Ligation-dependent Probe Amplification
BARD1
BRCA1
BRCA2
BRIP1
... (11)
susceptibility to Breast cancer114480
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • NGS
TTR
TRANSTHYRETIN; TTR176300
  • Sanger-Sequenzierung
TSC2
TSC2 GENE; TSC2191092
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TSC1
TUBEROUS SCLEROSIS; TS191100
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
CFTR
VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD277180
  • Multiplex-PCR
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
TUPLE 1
VELOCARDIOFACIAL SYNDROME192430
  • Single copy FISH (kommerzielle Sonden)
AN2
WT1
WAGR SYNDROME194072
  • Single copy FISH (eigene Sonden)
Elastin
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
WHSC1
WOLF-HIRSCHHORN SYNDROME; WHS194190
  • Single copy FISH (kommerzielle Sonden)

Panels

Gen Name Kategorie Schlagworte/Indikation
ACVRL1
BMPR2
GDF2
MADH4
Hereditary hemorrhagic telangiectasia (HHT) / Morbus Osler / Osler Rendu Weber disease panel
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
ATM
BARD1
BRCA1
BRCA2
BRIP1
... (11)
Mamma- und Ovarialkarzinom (familiär)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • DNA-Sequenzierung
Größe
keine Angaben
ACVRL1
AQP1
ATP13A3
BMPR1B
BMPR2
... (16)
Pulmonary arterial hypertension / primary pulmonary hypertension panel
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • Deletionsscreening
  • NGS
Größe
keine Angaben
EIF2AK4
Pulmonary veno-occulsive diesease (PVOD) / pulmonary capillary hemangiomatosis (PCH) panel
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • Sanger-Sequenzierung
  • Deletionsscreening
Größe
keine Angaben

Ringversuche

Ringversuch Kategorisierung Organisator Jahr