Einrichtung

Labor Berlin – Charité Vivantes GmbH

Humangenetik
Sylter Straße 2
13353 Berlin
Germany

Leiter bzw. Ansprechpartner der Einrichtung

Prof. Dr. Stefan Mundlos

Kategorisierung

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

Akkreditierung

Akkreditiert seit: 19.08.2008
Akkreditierende Organisation: DAP Deutsches Akkreditierungssystem Prüfwesen GmbH
Beschreibung: Molekulare Humangenetik, Nachweis von genetischen Variationen in DNA-Sequenzen entsprechend der Akkreditierungsurkunde DAP-ML-3869.00

Andere Einstellungen

  • Subtelomer-Tests
  • Pränataler Schnelltest

Molekulargenetik

Tumorzytogenetik

Genetische Beratung

Allgemeine Anmeldung, Sekretariat

Diagnosen

Gen Krankheit OMIM Methode

Panels

Gen Name Kategorie Schlagworte/Indikation
CYP11B1
CYP17A1
HSD3B2
CYP21A2
endocrinology / metabolism
BTK
CD79A
CD79B
CTPS1
E2A
... (13)
primary immunodeficiency
CD151
COL4A3
COL4A4
COL4A5
FN1
Renal Diseases
ATM
DNA Repair Defects
MRE11A
DNA Repair Defects
ADAMTS13
AIRE
CASP10
CASP8
FAS
... (11)
platelet disorder
CASP10
CASP8
CTLA4
FADD
FAS
... (12)
primary immunodeficiency
ADA2
CARD15
CIAS1
COPA
IL1RN
... (12)
primary immunodeficiency
HNF1B
MUC1
REN
SEC61A1
UMOD
Renal Diseases
BSND
CASR
CLCN5
CLCNKA
CLCNKB
... (12)
Renal Diseases
BICC1
BMP4
DSTYK
EYA1
HNF1B
... (12)
Renal Diseases
CASR
CLCN5
DMP1
ENPP1
FGF23
... (11)
bone and skeletal disease
GNAS
KL
STX16
bone and skeletal disease
ADA
CXCR4
DOCK8
GATA2
LCK
... (12)
primary immunodeficiency
ABCA3
CSF2RA
CSF2RB
NKX2-1
SFTPB
... (6)
pneumology
AIRE
CARD9
CLEC7A
DOCK8
IL12RB1
... (12)
primary immunodeficiency
ARID1A
ARID1B
PHF6
SMARCA4
SMARCB1
... (7)
developmental disorder
APOA5
APOB
APOE
GPIHBP1
LDLR
... (11)
Dyslipidemia
BTK
CTLA4
ICOS
LRBA
NFKB1
... (10)
primary immunodeficiency
ALG14
CHAT
CHRNA1
CHRNB1
CHRND
... (15)
Neuromuscular disease
AGRN
ALG2
CHRNG
COL13A1
LAMB2
... (13)
Neuromuscular disease
ERF
FGFR1
FGFR2
FGFR3
IFT122
... (12)
bone and skeletal disease
LDB3
LMNA
MYBPC3
MYH7
PLN
... (7)
congenital heart disease
ABCC9
ACTC1
ACTN2
ANKRD1
BAG3
... (44)
congenital heart disease
BMPR1B
GDF5
GLI3
HOXD13
IHH
... (11)
bone and skeletal disease
ARHGAP31
B9D1
BBS1
BHLHA9
DHCR7
... (36)
bone and skeletal disease
COL1A1
COL1A2
COL3A1
COL5A1
COL5A2
connective tissue diseases
CDC73
CDKN1B
DICER1
MEN1
NF1
... (7)
hereditary cancer
AIP
BAP1
CDKN2A
FH
KIF1B
... (13)
hereditary cancer
LRBA
MAGT1
SH2D1A
WAS
XIAP
primary immunodeficiency
CD27
CD70
CORO1A
CTPS1
ITK
... (13)
primary immunodeficiency
BTK
GH1
GHRHR
GHSR
GLI2
... (17)
endocrinology / metabolism
ABCA1
ANGPTL4
APOA1
APOA2
APOA4
... (14)
Dyslipidemia
ADGRE2
C1NH
CIAS1
F12
HMBS
... (12)
primary immunodeficiency
ARPC1B
DOCK8
IL6ST
ITK
PGM3
... (10)
primary immunodeficiency
AICDA
CD40
IKBKG
INO80
MSH6
... (12)
primary immunodeficiency
CASR
endocrinology / metabolism
AP2S1
GNA11
endocrinology / metabolism
AP2S1
GNA11
endocrinology / metabolism
ABCG5
ABCG8
APOB
APOE
CYP27A1
... (11)
Dyslipidemia
ABCC8
GCK
GLUD1
HADH
HNF1A
... (11)
endocrinology / metabolism
ALG3
AN2
CACNA1C
KMT2D
MPI
... (9)
endocrinology / metabolism
COL3A1
COL5A1
FBN1
TGFBR1
TGFBR2
bone and skeletal disease
ALDH18A1
ATP6V0A2
EFEMP2
Elastin
FBLN5
... (14)
bone and skeletal disease
APOA5
APOB
APOC2
APOC3
APOE
... (13)
Dyslipidemia
ACTC1
CAV3
CSRP3
MYBPC3
MYH7
... (13)
congenital heart disease
ACTC1
CAV3
CSRP3
MYBPC3
MYH7
... (13)
congenital heart disease
ACTC1
CAV3
CSRP3
MYBPC3
MYH7
... (13)
congenital heart disease
ACTN2
ANKRD1
CALR3
CASQ2
CRYAB
... (21)
congenital heart disease
ACTN2
ANKRD1
CALR3
CASQ2
CRYAB
... (21)
congenital heart disease
DUOX2 
DUOXA2
NKX2-5
PAX8
SLC5A5
... (9)
endocrinology / metabolism
FOXE1
GLIS3
GNAS
IGSF1
IYD
... (10)
endocrinology / metabolism
AR
DAX1
DHH
HSD17B3
HSD3B2
... (15)
developmental disorder
AHI1
CC2D2A
CEP290
MEM67/MKS3
NPHP1
... (7)
Renal Diseases
C3
CD46
CFB
CFD
CFH
... (13)
Renal Diseases
AGXT
CLCN5
CLDN16
CLDN19
CNNM2
... (14)
Renal Diseases
AGPAT2
BANF1
BSCL2
CAV1
CAVIN1
... (18)
Dyslipidemia
ANGPTL3
APOB
APOE
MTP
NPC1L1
... (7)
Dyslipidemia
ADAMTS3
CCBE1
EPHB4
FLT4
FOXC2
... (9)
genetic disorders of the lymphatic system
DCHS1
FAT4
GJA1
KIF11
PTPN14
... (6)
genetic disorders of the lymphatic system
ABCG8
ACTN1
FLNA
GP1BA
GP1BB
... (7)
platelet disorder
FBN1
TGFBR1
TGFBR2
connective tissue diseases
B9D1
B9D2
CC2D2A
CEP290
MEM67/MKS3
... (11)
Renal Diseases
CARMIL2
CYBB
IFNGR1
IFNGR2
IKBKG
... (13)
primary immunodeficiency
ABCC8
APPL1
BLK
CEL
GCK
... (14)
endocrinology / metabolism
AKT2
CAPN10
CISD2
GCGR
GLIS3
... (23)
endocrinology / metabolism
CEP290
GLIS2
INVS
IQCB1
NPHP1
... (7)
Renal Diseases
ACTN4
ARHGDIA
CD2AP
COL4A3
COL4A4
... (10)
Renal Diseases
CD40
CSF3R
CXCR4
ELA2
G6PC3
... (19)
primary immunodeficiency
COCH
COL11A2
DFNA5
DIAPH1
KCNQ4
... (7)
Hereditary Hearing Loss and Deafness
CDH23
MYO7A
PCDH15
SLC26A4
Hereditary Hearing Loss and Deafness
PTPN11
developmental disorder
BRAF
KRAS
RAF1
RIT1
SOS1
developmental disorder
AGRP
DYRK1B
LEP
LEPR
MC3R
... (13)
endocrinology / metabolism
CREB3L1
FBLN5
FKBP10
GORAB
LEPRE1
... (17)
bone and skeletal disease
ANKH
CLCN7
CTSK
FAM20C
LEMD3
... (12)
bone and skeletal disease
ABCC9
ACP5
BMP1
CA2
FAM123B
... (12)
bone and skeletal disease
ABCC9
ACP5
BMP1
CA2
FAM123B
... (13)
bone and skeletal disease
ALPL
BMP1
COL1A1
COL1A2
CRTAP
... (9)
bone and skeletal disease
CEBPE
CYBA
CYBB
FERMT3
G6PD
... (19)
primary immunodeficiency
CCDC103
CCDC39
DNAH5
DNAI1
RSPH1
... (7)
ciliopathy
ARMC4
CCDC114
CCDC151
CCDC40
CCDC65
... (37)
ciliopathy
ACVRL1
AQP1
BMPR1B
BMPR2
CAV1
... (14)
congenital heart disease
COL3A1
FGA
FGB
FGG
GP3A
... (8)
platelet disorder
BAP1
FH
FLCN
MET
p53
... (11)
Renal Diseases
ARX
CDKL5
FOXG1
IQSEC2
KCNA2
... (10)
developmental disorder
CEP290
IQCB1
NPHP1
NPHP3
NPHP4
... (7)
Renal Diseases
COL11A1
COL2A1
COMP
DTDST / SLC26A2
FGFR3
... (7)
bone and skeletal disease
ACAN
ARSE
CHST3
CHSY1
COL11A2
... (34)
bone and skeletal disease
ACAN
ARSE
CHST3
CHSY1
COL11A2
... (34)
bone and skeletal disease
ACADM
ACADS
ACADVL
AMPD1
CACNA1S
... (9)
Dyslipidemia
FCGR3A
GATA2
IKBKG
IRF3
STAT1
... (12)
primary immunodeficiency
ADA
AK2
CD247
CD3D
CD3E
... (17)
primary immunodeficiency
ADA
AK2
CD247
CD3D
CD3E
... (17)
primary immunodeficiency
ADA
AK2
DCLRE1C
LIG4
NHEJ1
... (8)
primary immunodeficiency
ACTA2
COL3A1
FBN1
MYH11
MYLK
... (9)
connective tissue diseases
ACTN1
AML1
ANKRD26
ETV6
FLI1
... (10)
platelet disorder
GATA1
GP1BA
NBEAL1
NBEAL2
PRKACG
... (7)
platelet disorder
AP3B1
BLOC1S3
BLOC1S6
DTNBP1
HPS1
... (9)
platelet disorder
DUOX2 
FOXP3
IL10
IL10RA
IL10RB
... (9)
primary immunodeficiency

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