List of diseases covered by Autosomal Dominant Retinitis Pigmentosa NGS panel

Published 25/01/2018

List of diseases covered by
Autosomal Dominant Retinitis Pigmentosa NGS panel

Gene	Condition
AIPL1	Juvenile retinitis pigmentosa, AIPL1-related
BEST1	Retinitis pigmentosa 50
CA4	Retinitis pigmentosa 17
CRX	Retinitis pigmentosa; Cone-rod dystrophy 2; Leber congenital amaurosis 7
FSCN2	Retinitis pigmentosa 30
GUCA1B	Retinitis pigmentosa 48
IMPDH1	Retinitis pigmentosa 10
KLHL7	Retinitis pigmentosa 42
NR2E3	Retinitis pigmentosa 37
NRL	Retinitis pigmentosa 27
PRKCG	Retinitis pigmentosa 11
PRPF3	Retinitis pigmentosa 18
PRPF6	Retinitis pigmentosa 60
PRPF8	Retinitis pigmentosa 13
PRPF31	Retinitis pigmentosa 11
PRPH2	Retinitis pigmentosa 7
RDH12	Leber congenital amaurosis 13
RGR	Retinitis pigmentosa 44
RHO	Retinitis pigmentosa 4
ROM1	Retinitis pigmentosa 7, digenic
RP1	Retinitis pigmentosa 1
RP9	Retinitis pigmentosa 9
RPE65	Retinitis pigmentosa 20
SEMA4A	Retinitis pigmentosa 35
SNRNP200	Retinitis pigmentosa 33
TOPORS	Retinitis pigmentosa 31

Eye Diseases NGS panel of 294 genes

Published 04/04/2017

Eye Diseases NGS panel of 294 genes

Genes
(full coding
region):

ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ADAM9, ADAMTS18, ADGRV1, AGK, AHI1, AIPL1, ALMS1 (excluding exon 8), ARL13B, ARL6, ATF6, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP2, BMP4, C19ORF12, C1QTNF5, C2orf71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFAP410 (C21orf2), CFH, CHM, CHMP4B, CHST6, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL4A6, COL8A2, COL9A1, COL9A2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CTNNA1, CTSD, CYP1B1, CYP4V2, DCN, DHDDS, DSPP, EFEMP1, ELOVL4, EPHA2, EYS, FAM161A, FLVCR1, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALK1, GALT, GDF3, GDF6, GFER, GIPC3, GJA1, GJA3, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMX1, HSF4, IDH3B, IFT140, IMPDH1, IMPG1, IMPG2, INVS, ITM2B, IQCB1, JAG1, JAM3, KARS1, KCNJ13, KCNV2, KIF11, KIF7, KIF21A, KLHL7, KRT12, KRT3, LAMA1, LCA5, LHFPL5, LIM2, LOXHD1, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MIP, MKKS, MKS1, MTTP, MVK, MYO7A, MYOC, NAA10, NDP, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1MW, OTX2, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX7, PHOX2A, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR (excluding ORF15), RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC45A2, SLC4A11, SMOC1, SNRNP200, SOX2, SPATA7, STRA6, TACSTD2, TCTN1, TCTN2, TDRD7, TEAD1, TGFBI, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TNC, TOPORS, TPP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUBB3, TUBB2B, TULP1, TYR, TYRP1, UBIAD1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, WHRN, YAP1, ZEB1, ZNF469, ZNF513, ZNF644

List of diseases covered by the panel

Lab method:

NGS panel with CNV analysis

TAT:

6-9 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information:

Go to online ordering or download sample submission form

Autosomal Dominant Retinitis Pigmentosa

Published 22/04/2010

Autosomal Dominant Retinitis Pigmentosa NGS panel

Genes
(full coding
region):

AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200, TOPORS

List of diseases covered by the panel

Lab method:

NGS panel with CNV analysis

TAT:

6-9 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

Ordering information:

Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes:

IMPDH1, PRPF31, RHO, RP1

Lab method:

MLPA

TAT:

4-6 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

Ordering information:

Go to online ordering or download sample submission form

Indications for genetic testing:

Confirmation of clinical diagnosis
Testing of individuals in subsequent generations with family history of autosomal dominant retinitis pigmentosa
Genetic counseling
Prenatal diagnosis for known familial mutation

Retinitis pigmentosa is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Affected individuals first experience night blindness, followed by reduction of the peripheral visual field and, sometimes, loss of central vision late in the course of the disease which eventually leads to blindness after several decades. Signs and symptoms often first appear in childhood, but severe visual problems do not usually develop until early adulthood. In some cases, RP is characterized by cone-rod dystrophy, in which the decrease in visual acuity predominates over loss of the visual field. RP is usually nonsyndromic but there are also many syndromic forms. The main risk factor is a family history of retinitis pigmentosa.