Eye disorders comprehensive panel

Synonyms: -
Material
Material:
EDTA blood
(1 ml)
Untersuchungsdauer
TAT:
3-6 weeks
Contact
Methode
Method:
NGS, CNV
Overview

Genetically determined eye disorders comprise a broad spectrum of conditions caused by pathogenic variants in numerous genes and are often associated with progressive vision loss. For example, is associated, among other manifestations, with , a degenerative retinal disorder. In , retinitis pigmentosa occurs in combination with , whereas and syndromes lead to structural ocular abnormalities that may result in retinal detachment and other visual impairments. is characterised by and retinitis pigmentosa, leading to renal failure and vision loss.

Eye disorders comprehensive panel
288 Gene(s)*
ABCA4
ABHD12
ACO2
ADAM9
ADGRV1
AFG3L2
AGBL5
AGK
AHR
AIPL1
ALMS1
ANTXR1
ARHGEF18
ARL2BP
ARL3
ARL6
ARSG
ATF6
ATP1A3
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BEST1
BFSP1
BFSP2
C12orf65
C19orf12
C1QTNF5
C8orf37
CA4
CABP4
CACNA1F
CACNA2D4
CC2D2A
CCDC28B
CDH23
CDH3
CDHR1
CEP164
CEP250
CEP290
CEP78
CERKL
CFAP410
CFH
CHMP4B
CHST6
CISD2
CLCC1
CLN3
CLRN1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
COL11A1
COL11A2
COL18A1
COL2A1
COL4A1
COL4A2
COL9A1
COL9A2
COL9A3
CRB1
CRX
CRYAA
CRYAB
CRYBA1
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGB
CRYGC
CRYGD
CRYGS
CTDP1
CTNNA1
CWC27
CYP27A1
CYP4V2
DHDDS
DHX38
DNAJC30
DNM1L
DNMBP
DRAM2
ELOVL4
EMC1
EPHA2
EPRS
EYS
FAM126A
FAM161A
FDXR
FLVCR1
FOXE3
FSCN2
FTL
FYCO1
GALK1
GCNT2
GDF6
GEMIN4
GJA3
GJA8
GNAT2
GUCA1A
GUCA1B
GUCY2D
HGSNAT
HK1
HKDC1
HMX1
HSF4
IDH3A
IDH3B
IFT140
IFT172
IFT27
IFT43
IFT74
IMPDH1
IMPG1
IMPG2
INVS
IQCB1
ISCA2
JAM3
KCNJ13
KCNV2
KERA
KIAA1549
KIF3B
KIZ
KLC2
KLHL7
LCA5
LEMD2
LIM2
LONP1
LRAT
LRP5
LSS
LZTFL1
MAF
MAK
MCAT
MECR
MERTK
MFF
MFN2
MFSD8
MIEF1
MIP
MKKS
MKS1
MYH9
MYO7A
NBAS
NDUFA12
NEK2
NHS
NMNAT1
NPHP1
NPHP3
NPHP4
NR2E3
NR2F1
NRL
NYX
OFD1
OPA1
OPA3
P3H2
PAX6
PCARE
PCDH15
PCYT1A
PDE6A
PDE6B
PDE6C
PDE6G
PDE6H
PDSS1
PDXK
PDZD7
PEX6
PITPNM3
PITX3
POC1B
POMGNT1
PRCD
PROM1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
PRPS1
PXDN
RAB18
RAB28
RAB3GAP1
RAB3GAP2
RAX2
RBP3
RBP4
RD3
RDH12
REEP6
RGR
RGS9
RGS9BP
RHO
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RS1
RTN4IP1
SAG
SDCCAG8
SDHA
SEMA4A
SIL1
SIPA1L3
SIX6
SLC16A12
SLC25A46
SLC33A1
SLC44A1
SLC52A2
SLC7A14
SNRNP200
SPATA7
SPG7
SSBP1
TBC1D20
TBCE
TDRD7
TIMM8A
TIMP3
TMEM126A
TMEM216
TMEM67
TOPORS
TRAF3IP1
TRIM32
TRNT1
TRPM1
TTC8
TTLL5
TUBB4B
TULP1
UCHL1
UNC119
UNC45B
USH1C
USH1G
USH2A
USP45
VCAN
VIM
VSX2
VWA8
WDPCP
WDR19
WFS1
WHRN
YME1L1
ZNF408
ZNF513
ZNHIT3


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Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

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