Molekulargenetik

Untersuchungsgebiete

Erkrankungen Gene

Q

Y

Z

7p12

7q32

AARS

ABCA1

ABCB11

ABCB4

ABCB7

ABCC8

ABHD12

ACE - Ins/Del-Polymorphismus

ACTA2

ACTC1

ACTG1

ACTN2

ACY1

ADAMTS2

ADAR

ADCK3

ADCY5

ADGRV1 (GPR98)

ADNP

ADRB2

ADRB3

ADSL

AFG3L

AFG3L2

AGPS

AGRP

AHI1

AKT1

AKT3

ALDH5A1

ALDH7A1

ALDOB

ALG13

ALMS1

ALS2

AMACR

AMT

ANG

ANGPTL3

ANGPTL4

ANK2

ANKH

ANKRD1

ANKRD11

ANO10

ANO3

ANO5

AOC1 (ABP1

AP1S2

APOA1

APOA5

APOB

APOC2

APOE

APP

APPL1

APTX

AR

ARFGEF2

ARHGEF10

ARHGEF15

ARHGEF9

ARID1A

ARID1B

ARL13B

ARSA

ARSE

ARX

ASAH1

ASCC1

ASPA

ASPM

ASXL1

ASXL3

ATL1

ATM

ATN1

ATP13A2

ATP1A2

ATP1A3

ATP6AP2

ATP7A

ATP7B

ATP8A2

ATP8B1

ATRX

ATXN1

ATXN2

ATXN3

ATXN7

AURKC

AUTS2

AZFa

AZFb

AZFc

B3GALT6

B4GALT7

BAG3

BDNF

BICD2

BLK

BMP1

BMP15 (GDF9B)

BMP6

BRAF

BRAT1

BRWD3

BSCL2

BSND

C10orf2

C10orf2/TWNK

C19orf12

C5orf42

C9OFR72

C9ORF72

CA8

CACNA1A

CACNA1C

CACNA1D

CACNA1G

CACNA1H

CACNA2D1

CACNB2

CACNB4

CALM1

CAPN3

CARTPT

CASK

CASQ2

CASR

CATSPER1

CAV3

CBL

CBS

CC2D2A

CCDC50

CCDC88C

CCND2

CD151

CDH23

CDK5RAP2

CDKL5

CDKN1C

CDON

CEL

CEP290

CEP41

CETP

CFTR

CHCHD10

CHD2

CHD7

CHD8

CHMP2B

CHRNA2

CHRNA4

CHRNB2

Chromosom 11

Chromosom 13

Chromosom 14

Chromosom 15

Chromosom 20

Chromosom 7

CHST14

CHSY1

CIB2

CISD2 (WFS2)

CLCN2

CLCN4

CLN3

CLN5

CLN6

CLP1

CLPP

CLRN1

CNTN2

CNTNAP2

COCH

COH1 (VPS13B)

COL11A1

COL11A2

COL1A1

COL1A2

COL2A1

COL3A1

COL4A1

COL4A2

COL4A3

COL4A4

COL4A5

COL4A6

COL5A1

COL5A2

COL9A1

COL9A2

COMP

CP

CPA1

CPA6

CPT2

CREBBP

CRH

CRTAP

CRYM

CSPP1

CSRP3

CSTB

CTC1

CTNNA3

CTRC

CUL4B

CYBB

CYP11B1

CYP17A1

CYP21A2

CYP2C9

CYP7B1

DAG1

DAO)

DARS2

DCAF17

DCTN1

DCX

DEPDC5

DES

DFNA5

DFNB31

DHCR7

DIAPH1

DIAPH2

DIS3L2

DLL1

DMD

DMPK

DMRT1

DNAJB2

DNAJB6

DNAJC5

DNM1

DNM2

DNMT1

DNMT3A

DOCK6

DOCK7

DOCK8

DPM2

DPP6

DPY19L2

DPYD

DRPLA

DRPLA (ATN1)

DSC2

DSG2

DSP

DTNA

DYNC1H1

DYRK1A

DYSF

EARS2

EBP

EDN3

EDNRB

EEF1A2

EEF2

EFHC1

EGR2

EHMT1

EIF2B1

EIF2B2

EIF2B3

EIF2B4

EIF2B5

ELANE

ELN

ELOVL4

ELOVL5

ELP4

EMD

EMX2

ENPP1

EP300

EPM2A

ESR1

ETFA

ETFB

ETFDH

ETHE1

EXOSC3

EXOSC8

EXT1

EXT2

EYA1

EYA4

EZH2

F12

F8

F9

FA2H

Faktor 13 - p.(Val35Leu)

Faktor 5 (Cambridge) - p.(Arg334Thr)

Faktor 5 (HR2) - p.(His1327Arg)

Faktor V-Leiden: F5 - p.(Arg534Gln)

FAM126A

FARS2

FASN

FASTKD2

FBN1

FBXL4

FBXO7

FBXW11

FGD1

FGF10

FGF14

FGF8

FGFR1

FGFR2

FGFR3

FIGLA

FKBP10

FKBP14

FKRP

FKTN

FLNA

FLVCR1

FMR1

FOLR1

FOXG1

FOXI1

FOXL2

FOXP1

FOXP2

FOXRED1

FRAS1

FRRS1L

FSHR

FTH1

FTL

FUS

FXN

FXTAS

G6PD

GAA

GABBR2

GABRA1

GABRB3

GABRD

GABRG2

GAMT

GARS

GARS1

GAS1

GBA

GBA2

GCDH

GCH1

GCK

GCSH

GDAP1

GDF9

GDI1

GFAP

GFER

GFM1

GHRL

GJB1 (CX32)

GJB2

GJB2 (CX26)

GJB3

GJB6

GLA

GLDC

GLI2

GLI3

GLUL

GM2A

GMPPB

GNAL

GNAO1

GNPAT

GOSR2

GPC3

GPC6

GPD1L

GPHN

GPIHBP1

GPR98

GPSM2

GRIA3

GRID2

GRIN1

GRIN2A

GRIN2B

GRM1

GRN

HADH

HAMP

HARS

HCN1

HCN2

HCN4

HD (HTT)

HD-like 1 (PRNP)

HD-like 2 (JPH3)

HD-like 4 (TBP)

HDAC4

HDAC8

HDlike (JPH3

HEPACAM

HESX1

HEXA

HEXB

HFE

HJV (HFE2)

HNF1A

HNF1B

HNF4A

HNMT

HNRNPDL

HNRNPH1

HNRNPU

HOXD10

HPRT1

HRAS

HSD17B10

HSD17B4

HSD3B2

HSPB1

HSPB3

HSPB8

HSPD1

HTRA1

HTT

HUWE1

IBA57

IFITM5

IGF2

IGHMBP2

IL1RAPL1

IL1RN

IL36RN

ILDR1

INHA

INPP5E

INS

IQSEC2

ISPD

ITM2B

ITPR1

JAG1

JPH2

JPH3

JRK

JUP

KAL1

KCNA1

KCNA2

KCNB1

KCNC1

KCNC3

KCND3

KCNE1

KCNE2

KCNE3

KCNH2

KCNH5

KCNJ10

KCNJ11

KCNJ2

KCNJ5

KCNMA1

KCNQ1

KCNQ2

KCNQ3

KCNQ4

KCNT1

KCTD7

KDM5C

KDM6A

KIAA0196

KIAA0586

KIF1B

KIF1C

KIF5A

KIF7

KLF11

KLHL10

KMT2A

KMT2D (MLL2)

KMT2D(MLL2)

KPTN

KRAS

L1CAM

LARS2

LCAT

LCT (Promotor)

LDB3

LDLR

LDLRAP1

LEP

LEPR

LEPRE1

LGI1

LHCGR

LHX3

LHX4

LIPC

LIPG

LITAF

LMF1

LMNA

LMNB1

LPIN2

LPL

LRPPRC

LRRK2

LRSAM1

LYRM7

LZTR1

MAP2K1

MAP2K2

MAPT

MARS2

MATR3

MBD5

MC3R

MC4R

MCPH1

ME2

MECP2

MED12

MEF2C

MEFV

methylierungssensitive MLPA 11p15

methylierungssensitive MLPA 15q11.2

methylierungssensitive MLPA11p15

Methyltetrahydrofolat-Reduktase: MTHFR - p.(Ala222Val)

MFN2

MIB1

MICU1

MID1

MITF

MLC1

MLPA

MLPA 11p11.2

MLPA 11p13-14

MLPA 17p11.2

MLPA 17p13.3

MLPA 17q12

MLPA 1p36

MLPA 20p12.2

MLPA 22q11.2

MLPA 22q13.2

MLPA 4p16.3

MLPA 5p15

MLPA 7q11.23

MLPA 8q24

MLPA Xq28

MLPA22q11

MLPA7p21

MLPA8q24

MOCS1

MOCS2

MPV17

MPZ

MRE11A

MRPS16

MRPS22

MSX2

MT-ATP6

MT-ND1

MT-ND3

MT-ND4

MT-ND5

MT-ND6

MT-RNR1

MT-TA

MT-TE

MT-TG

MT-TH

MT-TI

MT-TK

MT-TL1

MT-TL2

MT-TN

MT-TP

MT-TS1

MT-TS2

MT-TT

MT-TW

MTFMT

MTHFR

MTO1

MTOR

MTPAP

MTTP

MVK

MYBPC1

MYBPC3

MYH11

MYH14

MYH6

MYH7

MYH9

MYL2

MYL3

MYLK

MYLK2

MYO15A

MYO6

MYO7A

MYOT

MYOT (TTID)

NDE1

NDP

NDUFA1

NDUFA12

NDUFA2

NDUFA9

NDUFAF2

NDUFAF3

NDUFAF4

NDUFAF5

NDUFAF6

NDUFAF6. NDUFB3

NDUFB3

NDUFB9

NDUFS1

NDUFS2

NDUFS3

NDUFS4

NDUFS6

NDUFS7

NDUFS8

NDUFV1

NDUFV2

NECAP1

NEDD4L

NEFL

NEU1

NEUROD1

NFIX

NFU1

NHLRC1

NHS

NIPA1

NIPA2

NIPBL

NKX2-1

NLGN3

NLGN4X

NLRC4

NLRP12

NLRP3 (CIAS1)

NOBOX

NOD2

NOL3

NOTCH2

NOTCH3

NPC1

NPC2

NPHP1

NR0B2

NR1H4

NR5A1

NRAS

NRXN1

NSD1

NSDHL

NTRK2

NUBPL

NUDC

OFD1

OPA1

OPHN1

OTOA

OTOF

p.Cys282Tyr

p.His63Asp

PAFAH1B1

PAH

PAK3

PANK2

PARK2 (PRKN)

PARK7 (DJ1)

PAX2

PAX3

PAX4

PC

PCDH15

PCDH19

PCSK1

PCSK9

PDE6D

PDHA1

PDHB

PDHX

PDP1

PDSS1

PDSS2

PDX1

PDYN

PDZD7

PEX5

PEX7

PGK1

PHF6

PHGDH

PIGA

PIGN

PIGT

PIGV

PIK3AP1

PIK3CA

PIK3R2

PIK3R5

PINK1

PKD1

PKD2

PKHD1

PKP2

PLA2G6

PLCB1

PLCZ1

PLEC

PLEKHG5

PLN

PLOD1

PLOD2

PLP1

PMP22

PNKD

PNKP

PNLIP

PNPLA6

PNPO

PNPT1

POC1B

POLG

POLR1C

POLR1D

POLR3A

POLR3B

POMC

POMGNT1

POMT1

POMT2

POU1F1

POU3F4

PPARG

PPIB

PPP1CB

PPT1

PPT2

PQBP1

PRDM16

PRICKLE1

PRICKLE2

PRKAG2

PRKCG

PRKRA

PRNP

PROC

PROK2

PROKR2

PROP1

PROS1

Prothrombin-Gen: F2 - c.*97G>A in 3’UTR

PRPS1

PRRT2

PRSS1

PRX

PSEN1

PSEN2

PSMB8

PSTPIP1

PTCD1

PTCH1

PTCHD1

PTEN

PTPN11

PUS1

QARS

QDPR

RAB39B

RAB7A

RAD21

RAF1

RAI1

RANBP2

RANGAP1

RARS2

RASA1

RASA2

RBFOX1

RBFOX3

RBM20

REEP1

RELN

Repeatanalyse: FMR1

RET

RIN2

RIT1

RMND1

RMRP

RNASEH2A

RNASEH2B

RNASEH2C

RNF135

RNF216

ROGDI

RPGRIP1L

RPS6KA3 (RSK2)

RRAS

RRM2B

RTN2

RYR2

RYR3

SACS

SALL1

SALL4

SAMHD1

SARS2

SCA 1

SCA 17

SCA 2

SCA 3

SCA 6

SCA 7

SCA1

SCA2

SCARB2

SCN1A

SCN1B

SCN2A

SCN4B

SCN5A

SCN8A

SCN9A

SCO1

SCO2

SDC3

SDHA

SDHAF1

SDHAF2

SDHB

SDHC

SDHD

SEMA3E (Exon 17)

SEPT12

SERAC1

SERPINA1 (PI1)

SERPINC1

SERPINE1: PAI1 - 4G/5G-Polymorphismus

SERPINF1

SERPING1 (C1NH)

SERPINH1

SETD2

SETX

SEZ6

SGCA

SGCB

SGCD

SGCE

SGCG

SHANK2

SHANK3

SHH

SHOC2

SHOX

SIGMAR1

SIK1

SIL1

SIM1

SIX1

SIX3

SIX5

SLC13A5

SLC16A2

SLC19A2

SLC19A3

SLC1A3

SLC25A12

SLC25A19

SLC25A20

SLC25A22

SLC25A3

SLC25A4

SLC26A2

SLC26A4

SLC2A1

SLC33A1

SLC35A2

SLC39A13

SLC40A1

SLC5A7

SLC6A1

SLC6A3

SLC6A8

SLC9A6

SMAD2

SMAD3

SMARCA2

SMARCA4

SMARCB1

SMARCE1

SMC1A

SMC3

SMN1

SMS

SNAI2

SNCA

SNTA1

SNX14

SOD1

SOHLH1

SOHLH2

SOS1

SOS2

SOX10

SOX11

SP7

SPAST

SPATA16

SPG11

SPG7

SPINK1

SPR

SPRED1

SPTAN1

SPTBN2

SQSTM1

SRPX2

SRY

ST3GAL3

ST3GAL5

STAG3

STAR

STAT1

STAT3

STRADA

STRC

STS

STUB1

STX1B

STXBP1

SUCLA2

SUCLG1

SURF1

SYCP3

SYN1

SYNE1

SYNGAP1

SYNJ1

SYP

SYT14

SZT2

TACO1

TAF1

TARDBP

TARS2

TAZ

TBC1D24

TBC1D7

TBK1

TBP

TBX1

TBX5

TCAP

TCF4

TCOF1

TCTN1

TCTN2

TCTN3

TDP1

TECTA

TEX11

TEX14

TFR2

TGFB2

TGFB3

TGFBR1

TGFBR2

TGIF1

TGM6

TH

THAP1

TIMM8A

TJP2

TK2

TMC1

TMEM138

TMEM173

TMEM216

TMEM231

TMEM237

TMEM240

TMEM38B

TMEM43

TMEM67

TMEM70

TMPRSS3

TNFRSF1A

TNK2

TNNC1

TNNI3

TNNT2

TNPO3

TOR1A

TPK1

TPM1

TPP1

TPRN

TRDN

TREM2

TREX1

TRIM32

TRIP11

TRMU

TRPC3

TRPM4

TRPS1

TRPV4

TRPV6

TSC1

TSC2

TSFM

TTBK2

TTC19

TTC21B

TTR

TUBA1A

TUBB2A

TUBB2B

TUBB4A

TUFM

TWIST1

TYK2

TYMP

UBA1

UBE2A

UBE3A

UBQLN2

UBR5

UCP1

UCP3

UGT1A1

UGT1A1*1

UGT1A1*28

UGT1A1*6

UMOD

UQCRB

UQCRC2

UQCRQ

USH1C

USH1G

USH2A

USP9Y

VAMP1

VAPB

VARS2

VCL

VCP

VLDLR

VPS13A

VPS13B

VPS35

VRK1

VWF

WDR45

WDR62

WFS1

WHRN (DFNB31)

WNT1

WNT5A

WWOX

XK

YARS

YARS2

ZEB2

ZFYVE26

ZFYVE27

ZIC2

ZNF423

Unser Labor (Laborleitung: Dr. med. Mirjam Klaus) ist durch die Deutsche Akkreditierungsstelle GmbH (DAkkS) [D-ML-21438-01-00] nach DIN EN ISO 15189 flexibel akkreditiert.
Urkunde und Anlage finden sie hier.

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