Retinal dystrophies - comprehensive panel
Genes Tested 170 Genes
- ABCA4
- ABHD12
- ADAM9
- ADGRA3
- ADGRV1
- ADIPOR1
- AGBL5
- AIPL1
- ALMS1
- ARHGEF18
- ARL2BP
- ARL3
- ARL6
- BBIP1
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS5
- BBS7
- BBS9
- BEST1
- CA4
- CABP4
- CACNA1F
- CACNA2D4
- CAPN5
- CCDC28B
- CCDC51
- CDHR1
- CEP290
- CEP78
- CEP83
- CERKL
- CFAP20
- CFAP410
- CFAP418
- CHM
- CLEC3B
- CLRN1
- CNGA1
- CNGA3
- CNGB1
- CNGB3
- CNNM4
- CRB1
- CRX
- CTNNA1
- CWC27
- CYP4V2
- DHDDS
- DHX38
- DYNC2H1
- EFEMP1
- EMC1
- EXOSC2
- EYS
- FAM161A
- FLVCR1
- FSCN2
- GNAT2
- GNPTG
- GUCA1A
- GUCA1B
- GUCY2D
- HGSNAT
- HK1
- HPS1
- IDH3B
- IFT140
- IFT172
- IFT27
- IMPDH1
- IMPG1
- IMPG2
- INPP5E
- KCNV2
- KIF11
- KIZ
- KLHL7
- LRAT
- LZTFL1
- MAK
- MERTK
- MKKS
- MKS1
- MPDZ
- MVK
- NEK1
- NEK2
- NEUROD1
- NMNAT1
- NPHP1
- NPHP4
- NR2E3
- NRL
- OAT
- PAX6
- PCARE
- PCYT1A
- PDE6A
- PDE6B
- PDE6C
- PDE6G
- PDE6H
- PITPNM3
- PLA2G5
- PLCE1
- POC1A
- POC1B
- POMGNT1
- PRCD
- PROM1
- PRPF3
- PRPF31
- PRPF4
- PRPF6
- PRPF8
- PRPH2
- RAB28
- RAX2
- RBP3
- RBP4
- RCBTB1
- RDH11
- RDH12
- RDH5
- REEP6
- RGR
- RGS9
- RGS9BP
- RHO
- RIMS1
- RLBP1
- ROM1
- RP1
- RP1L1
- RP2
- RP9
- RPE65
- RPGR
- RPGRIP1
- RS1
- SAG
- SAMD11
- SDCCAG8
- SEMA4A
- SLC6A6
- SLC7A14
- SNRNP200
- SPATA7
- SPP2
- THRB
- TMEM67
- TOPORS
- TRIM32
- TRNT1
- TTC21B
- TTC8
- TTLL5
- TUB
- TULP1
- UNC119
- USH2A
- VPS13B
- WDPCP
- WDR19
- ZNF408
- ZNF513
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
777.02 |
Genes Tested |
170 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |