Together with Prof. Wolfgang Berger and Dr. John Neidhardt*, University of Zurich, Switzerland, and  Prof. Bernd Wissinge and Dr. Susanne Kohl, University of Tübingen, Germany, CeGaT has developed 16 different Panels (v.3) for simultaneously analyzing multiple genes causing hereditary eye diseases.

The sequencing of the genes mentioned below is performed on the SOLiD  platforms via next generation sequencing. The obtained data are analyzed based on the particular request. All variants being found are validated on the capillary sequencer.

For diagnostic purposes and based on the particular phenotype each of the 16 Panels can be ordered separately or in combination with other panels. The price depends on the number of genes ordered and will be gladly provided upon request. A deletion analysis can be requested separately.

Download Order form.

* Berger W, Kloeckener-Gruissem B, Neidhardt J (2010), The molecular basis of human retinal and vitreoretinal diseases, Prog Retin Eye Res.

Panel 1: Usher syndrome (11 genes)

• CDH23
• CLRN1
• CLRN3
• DFNB31
• GPR98
• MYO7A
• PCDH15
• USH1C
• USH1G
• USH2A
• PDZD7 (Usher Modifier)

Panel 2: Autosomal dominant +X-linked retinitis pigmentosa  (26 genes)

• BEST1
• CA4
• CRX
• FSCN2
• GUCA1B
• IMPDH1
• KLHL7
• NR2E3
• NRL
• PAP1
• PRPF3
• PRPF31
• PRPF8
• PRPH2
• RDH12
• RGR
• RHO
• ROM1
• RP1
• RP2
• RP9
• RPE65
• RPGR
• SEMA4A
• SNRNP200
• TOPORS

Panel 3: Autosomal recessive retinitis pigmentosa (41 genes)

• ABCA4
• BBS1
• BBS8 (TTC8)
• BEST1
• C2ORF71
• C8orf37
• CERKL
• CNGA1
• CNGB1
• CRB1
• DHDDS
• EYS
• FAM161A
• FLVCR1
• GNPTG
• IDH3B
• IMPG2
• LRAT
• MAK
• MERTK
• NR2E3
• NRL
• PDE6A
• PDE6B
• PDE6G
• PRCD
• PROM1
• RBP3
• RDH12
• RGR
• RHO
• RLBP1
• RP1
• RP2
• RPE65
• RPGR
• SAG
• SPATA7
• TULP1
• USH2A
• ZNF513

Panel 4: Achromatopsia (4 genes)

• CNGA3
• CNGB3
• GNAT2
• PDE6C

Panel 5: Bardet Biedl syndrome (18 genes)

• ALMS1
• BBS1
• BBS2
• BBS3 (ARL6)
• BBS4
• BBS5
• BBS6 (MKKS)
• BBS7
• BBS8 (TTC8)
• BBS9
• BBS10
• BBS11
• BBS12
• BBS13 (MKS1)
• BBS14 (CEP290)
• CCDC28B
• SDCCAG8
• WDPCP

Panel 6: Congenital stationary night blindness (18 genes)

• CABP4
• CACNA1F
• CACNA2D4
• GNAT1
• GPR179
• GRK1
• GRM6
• NYX
• PDE6B
• RBP4
• RHO
• SAG1
• SLC24A1
• TRPM1

Panel 7: Joubert syndrome (17 genes)

• AHI1
• ARL13B
• CC2D2A
• CEP290
• CEP41
• INPP5E
• KIF7
• NPHP1
• OFD1
• RPGRIP1L
• TECT1
• TCTN2
• TMEM138
• TMEM216
• TMEM237
• TMEM67
• TTC21B

Panel 8: Leber congenital amaurosis (18 genes)

• AIPL1
• CEP290
• CRB1
• CRX
• GUCY2D
• KCNJ13
• LCA5
• LRAT
• NPHP5
• RD3
• RDH5
• RDH12
• RPE65
• RPGRIP1
• SPATA7

Panel 9: Primary ciliary dyskinesia (12 genes)

• CCDC39
• CCDC40
• DNAAF1
• DNAAF2 (KTU)
• DNAH5
• DNAH11
• DNAI1
• DNAI2
• DNAL1
• RSPH4A
• RSPH9
• TXNDC3

Panel 10: Refsum disease (5 genes)

• PHYH
• PEX1
• PEX2
• PEX7
• PEX26

Panel 11: Senior Loken syndrome (7 genes)

• CEP290
• NPHP1
• NPHP2
• NPHP3
• NPHP4
• NPHP5
• SDCCAG8

Panel 12: Stargardt disease and macular dystrophies (13 genes)

• ABCA4
• BEST1
• C1QTNF5
• CDH3
• CNGB3
• ELOVL4
• FSCN2
• PROM1
• PRPH2
• RDH12
• RP1L1
• RPGR
• TIMP3

Panel 13: Cone rod dystrophies (27 genes)

• ABCA4
• ADAM9
• AIPL1
• C8ORF37
• CABP4
• CACNA1F
• CACNA2D4
• CDHR1
• CERKL
• CNGB3
• CNNM4
• CRX
• GUCA1A
• GUCY2D
• KCNV2
• PDE6C
• PITPNM3
• PROM1
• PRPH2
• RAX2
• RDH5
• RGS9
• RGS9BP
• RIMS1
• RPGR
• RPGRIP1
• SEMA4A

Panel 14: Flecked retina disorders (7 genes)

• CHM
• EFEMP
• PLA2G5
• RDH5
• RLBP1
• RS1
• VPS13B

Panel 15: Familial exudative vitreoretinopathy and Wagner syndrome (6 genes)

• COL2A1
• FZD4
• LRP5
• NDP
• TSPAN12
• VCAN

Panel 16: Stickler syndrome (5 genes)

• COL2A1
• COL9A1
• COL9A2
• COL11A1
• COL11A2

We also do gene testing of single genes - please send a request at info {at} cegat.de. Further information can be found in the section Molecular Diagnostics.