Einrichtung

MVZ genetikum GmbH

Wegenerstr. 15
89231 Neu-Ulm
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Dr. med. Karl Mehnert

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 05.08.2004
Akkreditierende Organisation: DACH
Beschreibung: DIN EN ISO 15189 / DIN EN ISO/IEC 17025

Andere Einstellungen

  •  Subtelomer-Tests
  •  Pränataler Schnelltest

Molekulargenetik

Molekulare Zytogenetik

Zytogenetik

Genetische Beratung

Diagnosen

Gen Krankheit OMIM Methode
FGFR3
ACHONDROPLASIA; ACH100800
  • Sanger-Sequenzierung
AMPD1
ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1102770
  • Sanger-Sequenzierung
TARDB/TDP-43
AMYOTROPHIC LATERAL SCLEROSIS 10612069
  • Sanger-Sequenzierung
KCNJ2
ANDERSEN-TAWIL SYNDROME170390
  • Sanger-Sequenzierung
SLC9A6
SNRPN
ANGELMAN SYNDROME; AS105830
  • Single copy FISH (kommerzielle Sonden)
FGFR2
APERT SYNDROME101200
  • Sanger-Sequenzierung
Berardinelli-Seip-congenital Lipodystrophy270685
  • Sanger-Sequenzierung
BTK
BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK300300
  • Sanger-Sequenzierung
RYR1
Central Core Disease of Muscle117000
  • Sanger-Sequenzierung
NOTCH3
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL125310
  • Sanger-Sequenzierung
MFN2
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2609260
MPZ
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A118220
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B118200
GDAP1
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A214400
  • Sanger-Sequenzierung
Cx32-GJB1
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1302800
NEFL
Charlot-Marie-Tooth Disease Type 1F607734
  • Sanger-Sequenzierung
F2
COAGULATION FACTOR II; F2176930
  • PCR-Analyse
RPS6KA3
COFFIN-LOWRY SYNDROME; CLS303600
  • Sanger-Sequenzierung
NIPBL
CORNELIA DE LANGE SYNDROME; CDLS122470
  • Sanger-Sequenzierung
HRAS
Costello syndrome218040
  • Sanger-Sequenzierung
PTEN
COWDEN DISEASE; CD158350
  • Sanger-Sequenzierung
CRI-DU-CHAT SYNDROME123450
  • Single copy FISH (kommerzielle Sonden)
UGT1A1
CRIGLER-NAJJAR SYNDROME218800
  • Sanger-Sequenzierung
FGFR2
CROUZON SYNDROME123500
  • Sanger-Sequenzierung
CFTR
CYSTIC FIBROSIS; CF219700
  • Multiplex-PCR
  • Sanger-Sequenzierung
GJB2
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 1; DFNB1220290
DIGEORGE SYNDROME; DGS188400
  • Single copy FISH (eigene Sonden)
SRY
DOSAGE-SENSITIVE SEX REVERSAL; DSS300018
SCN1A
DRAVET SYNDROME607208
  • Sanger-Sequenzierung
ATP1A3
DYSTONIA-PARKINSONISM, RAPID-ONSET; RDP128235
  • Sanger-Sequenzierung
DMPK
DYSTROPHIA MYOTONICA 1160900
  • Triplett-Repeat-Expansion
STXBP1
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY 4612164
  • Sanger-Sequenzierung
FHL1
Emery-Dreifuss muscular dystrophy type 6300696
  • Sanger-Sequenzierung
LMNA
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT; EDMD2181350
  • Sanger-Sequenzierung
ELOVL5
EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED; EDMD310300
  • Sanger-Sequenzierung
KCNQ2
KCNQ3
EPILEPSY, BENIGN NEONATAL, 1; EBN1121200
  • Sanger-Sequenzierung
FABRY DISEASE301500
  • Sanger-Sequenzierung
F5
FACTOR V DEFICIENCY227400
  • PCR-Analyse
MEFV
FAMILIAL MEDITERRANEAN FEVER; FMF249100
  • Sanger-Sequenzierung
FMR1
FRAGILE SITE MENTAL RETARDATION 1 GENE; FMR1309550
  • PCR-Analyse
  • Triplett-Repeat-Expansion
  • Southern-Blot
SCN1A
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS604233
  • Sanger-Sequenzierung
UGT1A1
GILBERT SYNDROME143500
  • Sanger-Sequenzierung
  • Fragmentanalyse
SLC2A1
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER138140
  • Sanger-Sequenzierung
GLYCOGEN STORAGE DISEASE I232200
  • Sanger-Sequenzierung
G6PT1
GLYCOGEN STORAGE DISEASE Ib232220
  • Sanger-Sequenzierung
GAA
GLYCOGEN STORAGE DISEASE II232300
  • Sanger-Sequenzierung
AGL
glycogen storage disease III232400
  • Sanger-Sequenzierung
GBE1
GLYCOGEN STORAGE DISEASE IV232500
  • Sanger-Sequenzierung
PYGM
GLYCOGEN STORAGE DISEASE V232600
  • Sanger-Sequenzierung
BMP2
HAMP
Hepcidin
HFE
... (6)
HEMOCHROMATOSIS; HFE235200
  • Sanger-Sequenzierung
  • PCR-Analyse
MTHFR
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY236250
HD
HUNTINGTON DISEASE; HD143100
  • Triplett-Repeat-Expansion
L1CAM
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS; HSAS307000
  • Sanger-Sequenzierung
MVK
HYPER-IgD SYNDROME; HIDS260920
  • Sanger-Sequenzierung
SCN4A
HYPERKALEMIC PERIODIC PARALYSIS; HYPP170500
  • Sanger-Sequenzierung
MPZ
PMP22
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS145900
FGFR3
HYPOCHONDROPLASIA; HCH146000
  • Sanger-Sequenzierung
CACNA1S
KCNJ2
SCN4A
HYPOKALEMIC PERIODIC PARALYSIS; HOKPP170400
  • Sanger-Sequenzierung
HYPOPHOSPHATEMIA, X-LINKED307800
  • Sanger-Sequenzierung
JACKSON-WEISS SYNDROME; JWS123150
  • Sanger-Sequenzierung
KMT2D
Kabuki syndrome147920
  • Sanger-Sequenzierung
KALLMANN SYNDROME 1; KAL1308700
  • Single copy FISH (kommerzielle Sonden)
SHOX
LANGER MESOMELIC DYSPLASIA249700
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
PTPN11
RAF1
LEOPARD SYNDROME151100
  • Sanger-Sequenzierung
SHOX
LERI-WEILL DYSCHONDROSTEOSIS; LWD127300
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
EIF2B2
EIF2B5
Leukoencephalopathy with vanishing white matter603896
LIS 1
LISSENCEPHALY I; LIS1607432
  • Sanger-Sequenzierung
TGFBR1
TGFBR2
Loeys-Dietz syndrome609192
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
RYR1
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1145600
  • Sanger-Sequenzierung
FBN1
TGFBR1
TGFBR2
MARFAN SYNDROME; MFS154700
  • Sanger-Sequenzierung
marker chromosomes
  • Single copy FISH (kommerzielle Sonden)
  • WCP (Paint FISH)
ATP7A
MENKES DISEASE309400
  • Sanger-Sequenzierung
MECP2
MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM300055
SLC9A6
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE300243
  • Sanger-Sequenzierung
ATP1A2
CACNA1A
SCN1A
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2602481
  • Sanger-Sequenzierung
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS247200
  • Single copy FISH (kommerzielle Sonden)
DMD
MUSCULAR DYSTROPHY, BECKER TYPE; BMD300376
DMD
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD310200
LMNA
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B159001
  • Sanger-Sequenzierung
CAV3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C; LGMD1C607801
  • Sanger-Sequenzierung
CAPN3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A; LGMD2A253600
  • Sanger-Sequenzierung
DYSF
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B253601
  • Sanger-Sequenzierung
FKRP
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I; LGMD2I607155
  • Sanger-Sequenzierung
ANO5
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L611307
  • Sanger-Sequenzierung
CLCN1
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT160800
  • Sanger-Sequenzierung
CLCN1
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE255700
  • Sanger-Sequenzierung
ACTA1
TPM2
nemaline myopathy 3161800
  • Sanger-Sequenzierung
NEUROFIBROMATOSIS, TYPE I; NF1162200
NF2
NEUROFIBROMATOSIS, TYPE II; NF2101000
RAB7
Neuropathy (Charlot-Marie-Tooth) Type 2B600882
  • Sanger-Sequenzierung
PMP22
NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP162500
COL1A1
COL1A2
OSTEOGENESIS IMPERFECTA, TYPE I166200
  • Sanger-Sequenzierung
CFTR
PRSS1
SPINK
PANCREATITIS, HEREDITARY; PCTT167800
  • Sanger-Sequenzierung
SCN4A
Paramyotonia congenita of von Eulenburg168300
  • Sanger-Sequenzierung
GJA12
Pelizeaus-Merzbacher-Like Disease 1608804
  • Sanger-Sequenzierung
SLC26A4
PENDRED SYNDROME; PDS274600
TNFRSF1A
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT142680
  • Sanger-Sequenzierung
FGFR2
PFEIFFER SYNDROME101600
  • Sanger-Sequenzierung
SNRPN
PRADER-WILLI SYNDROME; PWS176270
  • Single copy FISH (kommerzielle Sonden)
PI
PROTEASE INHIBITOR 1; PI107400
  • Sanger-Sequenzierung
CDKL5
FOXG1
MECP2
RETT SYNDROME; RTT312750
  • Sanger-Sequenzierung
RHD
RHESUS BLOOD GROUP, D ANTIGEN; RHD111680
CREBBP
RUBINSTEIN-TAYBI SYNDROME; RSTS180849
  • Sanger-Sequenzierung
FGFR1
FGFR2
TWIST1
SAETHRE-CHOTZEN SYNDROME; SCS101400
  • Sanger-Sequenzierung
SRY
SEX-DETERMINING REGION Y; SRY480000
SHOX
SHORT STATURE HOMEOBOX; SHOX312865
  • Sanger-Sequenzierung
  • MLPA (Multiple Ligation-dependent Probe Amplification
DHCR7
SMITH-LEMLI-OPITZ SYNDROME; SLOS270400
SMCR
SMITH-MAGENIS SYNDROME; SMS182290
NFIX
NSD1
SOTOS SYNDROME117550
SPAST
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4182601
  • Sanger-Sequenzierung
FOXP2
Speech-language disorder 1602081
  • Sanger-Sequenzierung
AZF
DAZ
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED415000
AR
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1313200
SMN1
SPINAL MUSCULAR ATROPHY, TYPE I; SMA1253300
SMN1
SPINAL MUSCULAR ATROPHY, TYPE II; SMA2253550
SMN1
SPINAL MUSCULAR ATROPHY, TYPE III; SMA3253400
FGFR3
THANATOPHORIC DYSPLASIA; TD187600
  • Sanger-Sequenzierung
Uniparental disomy of chromosome 14
WILLIAMS-BEUREN SYNDROME; WBS194050
  • Single copy FISH (kommerzielle Sonden)
WT1
WILMS TUMOR 1; WT1194070
  • Sanger-Sequenzierung
WT1
WILMS TUMOR AND PSEUDOHERMAPHRODITISM194080
  • Sanger-Sequenzierung
ATP7B
WILSON DISEASE277900
  • Sanger-Sequenzierung
WOLF-HIRSCHHORN SYNDROME; WHS194190
  • Single copy FISH (kommerzielle Sonden)

Panels

Gen Name Kategorie Schlagworte/Indikation
ABRAXAS1
APC
ATM
BARD1
BLM
... (40)
Cancer Syndromes
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
BRAF
KRAS
MAP2K1
MAP2K2
CARDIOFACIOCUTANEOUS SYNDROME
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
Cx32-GJB1
ECEL1
MPZ
PMP22
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ACTA2
ADAMTS10
ADAMTS2
ADAMTSL4
ALDH18A1
... (68)
Connective tissue diseases
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
ABHD12
ACTG1
ADGRV1
ANKH
ATP6V1B1
... (100)
ear disease
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
ADAR
ADCY5
ADSL
ALDH7A1
ALG13
... (217)
epilepsy
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
20 kb
ABCA4
ABCB6
ABHD12
ACO2
AGBL1
... (288)
Eye Diseases
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
ACTC1
ACVR1
ADAMTS10
AKAP9
AKT3
... (108)
Heart Diseases
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
24 kb
AKT3
AN2
ANOS1
AP1S2
ARFGEF2
... (95)
Holoprosencephaly
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
ANOS1
CHD7
DUSP6
FEZF1
FGF17
... (23)
infertility
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
24 kb
FGF8
FGFR1
PROK2
PROKR2
Kallmann Syndrome 2
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ABHD5
ACADM
ACADS
ACADVL
ACTA1
... (236)
Kardiomyopathie
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
BRCA1
BRCA2
PTEN
RAD51C
Mamma- und Ovarialkarzinom (familiär)
Imported from Diagnostics
Spezifikation
  • Molecular Genetic
Methode
  • MLPA (Multiple Ligation-dependent Probe Amplification
  • DNA-Sequenzierung
Größe
keine Angaben
ACSL4
AFF2
AGTR2
AIFM1
AP1S2
... (104)
mental retardation and other
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
ABHD5
ACADM
ACADS
ACADVL
AGL
... (58)
Metabolic Diseases
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
18 kb
ABHD5
ACADM
ACADS
ACADVL
ACTA1
... (236)
muscle dysmorphia
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
AARS
ABCA1
ABCD1
ABHD12
ACP33
... (187)
Neuropathie
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb
A2ML1
BRAF
CBL
HRAS
KRAS
... (19)
Noonan / RASopathie
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
24 kb
KRAS
PTPN11
RAF1
SHOC2
SOS1
NOONAN SYNDROME 1; NS1
Imported from Diagnostics
Spezifikation
  • Prenatal diagnostics
  • Molecular Genetic
Methode
  • DNA-Sequenzierung
Größe
keine Angaben
ADA2
AP1S3
CARD14
CARD15
CIAS1
... (25)
Periodic fever syndromes
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
24 kb
ACP5
ADAMTSL2
AGPS
ALPL
ALX1
... (260)
skeletal disease
Multi gene panel
Spezifikation
  • Molecular Genetic
Methode
  • NGS
Größe
25 kb

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
DMD/BMD
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
Chorea Huntington
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
CMT/HMSN
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Hämochromatose
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
Prader-Willi- und Angelman-Syndrom
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
CMT/HMSN
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
DMD/BMD
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
FISH RV 9 Mikrodeletionen (Prophase/Metaphase in situ Hybridization)
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2006
Hämochromatose
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
Huntington Krankheit
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
Prader-Willi- und Angelman-Syndrom
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006