Einrichtung

Genetikum -Genetische Beratung & Diagnostik Dr.Mehnert & Partner

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)
Multi gene panel
BRAF
KRAS
MAP2K1
MAP2K2
Imported from Diagnostics
Cx32-GJB1
ECEL1
MPZ
PMP22
Imported from Diagnostics
ACTA2
ADAMTS10
ADAMTS2
ADAMTSL4
ALDH18A1
... (68)
Multi gene panel
ABHD12
ACTG1
ADGRV1
ANKH
ATP6V1B1
... (100)
Multi gene panel
ADAR
ADCY5
ADSL
ALDH7A1
ALG13
... (217)
Multi gene panel
ABCA4
ABCB6
ABHD12
ACO2
AGBL1
... (288)
Multi gene panel
ACTC1
ACVR1
ADAMTS10
AKAP9
AKT3
... (108)
Multi gene panel
AKT3
AN2
ANOS1
AP1S2
ARFGEF2
... (95)
Multi gene panel
ANOS1
CHD7
DUSP6
FEZF1
FGF17
... (23)
Multi gene panel
FGF8
FGFR1
PROK2
PROKR2
Imported from Diagnostics
ABHD5
ACADM
ACADS
ACADVL
ACTA1
... (236)
Multi gene panel
BRCA1
BRCA2
PTEN
RAD51C
Imported from Diagnostics
ACSL4
AFF2
AGTR2
AIFM1
AP1S2
... (104)
Multi gene panel
ABHD5
ACADM
ACADS
ACADVL
AGL
... (58)
Multi gene panel
ABHD5
ACADM
ACADS
ACADVL
ACTA1
... (236)
Multi gene panel
AARS
ABCA1
ABCD1
ABHD12
ACP33
... (187)
Multi gene panel
A2ML1
BRAF
CBL
HRAS
KRAS
... (19)
Multi gene panel
KRAS
PTPN11
RAF1
SHOC2
SOS1
Imported from Diagnostics
ADA2
AP1S3
CARD14
CARD15
CIAS1
... (25)
Multi gene panel
ACP5
ADAMTSL2
AGPS
ALPL
ALX1
... (260)
Multi gene panel

Ringversuche

Ringversuch Kategorisierung Organisator Jahr
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2008
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2007
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular cytogenetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006
  • molecular genetics
BVDH
10115 Berlin
Deutschland
2006