Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/
List of diseases covered by the NGS panel of 294 genes
Published 03/01/2018List of diseases covered by the NGS panel of 294 genes
Gene | Condition |
ABCA4 | Stargardt disease 1; Cone-rod dystrophy 3 |
ABCB6 | Microphthalmia, isolated, with coloboma 7 |
ABCC6 | Pseudoxanthoma elasticum |
ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
ACBD5 | Cone-rod dystrophy |
ADAM9 | Cone-rod dystrophy 9 |
ADAMTS18 | Microcornea, myopic chorioretinal atrophy, and telecanthus |
ADGRV1 | Usher syndrome, type 2C |
AGK | Cataract, autosomal recessive congenital 5 |
AHI1 | Joubert syndrome 3 |
AIPL1 | Leber congenital amaurosis 4 |
ALMS1 | Alstrom syndrome |
ARL13B | Joubert syndrome 8 |
ARL6 | Bardet-Biedl syndrome 3 |
ATF6 | Achromatopsia 7 |
B3GLCT | Peters plus syndrome |
BBS1 | Bardet-Biedl syndrome 1 |
BBS2 | Bardet-Biedl syndrome 2 |
BBS4 | Bardet-Biedl syndrome 4 |
BBS5 | Bardet-Biedl syndrome 5 |
BBS7 | Bardet-Biedl syndrome 7 |
BBS9 | Bardet-Biedl syndrome 9 |
BBS10 | Bardet-Biedl syndrome 10 |
BBS12 | Bardet-Biedl syndrome 12 |
BCOR | Oculofaciocardiodental syndrome |
BEST1 | Vitelliform macular dystrophy type 2; Retinitis pigmentosa 50; Vitreoretinochoroidopathy; Bestrophinopathy, autosomal recessive |
BFSP2 | Cataract, autosomal dominant, multiple types 1 |
BMP4 | Microphthalmia syndromic 6 |
C19orf12 | Neurodegeneration with brain iron accumulation 4 |
C1QTNF5 | Late-onset retinal degeneration |
C2orf71 | Retinitis pigmentosa 54 |
C8orf37 | Bardet-Biedl syndrome 21; Cone-rod dystrophy 16 |
CA4 | Retinitis pigmentosa 17 |
CABP4 | Congenital stationary night blindness, type 2B |
CACNA1F | Congenital stationary night blindness, type 2A |
CACNA2D4 | Cone-rod dystrophy X-linked 3; Retinal cone dystrophy 4 |
CC2D2A | Joubert syndrome 9; Meckel syndrome type 6; COACH syndrome |
CDH23 | Usher syndrome, type 1D |
CDH3 | EEM syndrome; Juvenile macular degeneration and hypotrichosis |
CDHR1 | Cone-rod dystrophy 15 |
CEP290 | Leber congenital amaurosis 10; Bardet-Biedl syndrome 14 |
CEP41 | Joubert syndrome 15 |
CERKL | Retinitis pigmentosa 26 |
CFAP410 | Retinal dystrophy with macular staphyloma; Spondylometaphyseal dysplasia, axial |
CFH | Age-related macular degeneration 4 |
CHM | Choroideremia |
CHMP4B | Cataract, posterior polar, 3 |
CHST6 | Macular corneal dystrophy type I |
CIB2 | Usher syndrome, type 1J |
CLN3 | Juvenile neuronal ceroid lipofuscinosis |
CLN5 | Ceroid lipofuscinosis neuronal 5 |
CLN6 | Ceroid lipofuscinosis neuronal 6 |
CLN8 | Ceroid lipofuscinosis neuronal 8 |
CLRN1 | Retinitis pigmentosa 61; Usher syndrome, type 3A |
CNGA1 | Retinitis pigmentosa 49 |
CNGA3 | Achromatopsia 2 |
CNGB1 | Retinitis pigmentosa 45 |
CNGB3 | Achromatopsia 3 |
CNNM4 | Cone-rod dystrophy amelogenesis imperfecta |
COL11A1 | Stickler syndrome, type 2; Marshall syndrome |
COL11A2 | Stickler syndrome, type 3 |
COL2A1 | Stickler syndrome type 1 |
COL8A2 | Corneal dystrophy Fuchs endothelial 1; Corneal dystrophy, posterior polymorphous, 2 |
COL4A1 | Retinal arteries, tortuosity of |
COL4A6 | Deafness, X-linked 6 |
COL9A1 | Stickler syndrome, type 4 |
COL9A2 | Stickler syndrome, type 5 |
CRB1 | Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa 12 |
CRX | Leber congenital amaurosis 7; Cone-rod dystrophy 2 |
CRYAA | Cataract, autosomal dominant |
CRYAB | Cataract 16, multiple types |
CRYBA1 | Cataract, congenital zonular, with sutural opacities |
CRYBA4 | Cataract 23 |
CRYBB1 | Cataract, congenital nuclear, autosomal recessive 3 |
CRYBB2 | Cataract 3, multiple types |
CRYBB3 | Cataract, congenital nuclear, autosomal recessive 2 |
CRYGB | Cataract 39, multiple types |
CRYGC | Cataract, coppock-like |
CRYGD | Cataract 4 |
CRYGS | Cataract 20, multiple types |
CTDP1 | Congenital Cataracts, facial dysmorphism, and neuropathy |
CTNNA1 | Macular dystrophy, patterned, 2 |
CTSD | Ceroid lipofuscinosis neuronal 10 |
CYP1B1 | Anterior segment dysgenesis 6; Glaucoma 3, primary infantile, b |
CYP4V2 | Bietti crystalline corneoretinal dystrophy |
DCN | Congenital stromal corneal dystrophy |
DHDDS | Retinitis pigmentosa 59 |
DSPP | Deafness, autosomal dominant 39, with dentinogenesis |
EFEMP1 | Doyne honeycomb retinal dystrophy |
ELOVL4 | Stargardt disease 3 |
EPHA2 | Cataract 6, multiple types |
EYS | Retinitis pigmentosa 25 |
FAM161A | Retinitis pigmentosa 28 |
FLVCR1 | Posterior column ataxia with retinitis pigmentosa |
FRAS1 | Cryptophthalmos syndrome |
FREM1 | Marles Greenberg Persaud syndrome |
FREM2 | Cryptophthalmos syndrome |
FSCN2 | Retinitis pigmentosa 30 |
FTL | Hyperferritinemia cataract syndrome |
FYCO1 | Cataract, autosomal recessive congenital 2 |
FZD4 | Exudative vitreoretinopathy 1 |
GALK1 | Deficiency of galactokinase |
GALT | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
GDF3 | Klippel-Feil syndrome 3, autosomal dominant; Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6 |
GDF6 | Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Microphthalmia, isolated 4 |
GFER | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
GIPC3 | Deafness, autosomal recessive 15 |
GJA1 | Oculodentodigital dysplasia, autosomal recessive |
GJA3 | Zonular pulverulent cataract 3 |
GNAT1 | Congenital stationary night blindness, autosomal dominant 3; Night blindness, congenital stationary, type 1g |
GNAT2 | Achromatopsia 4 |
GNPTG | Mucolipidosis III gamma |
GPR143 | Ocular albinism, type I; Nystagmus 6, congenital, X-linked |
GPR179 | Congenital stationary night blindness, type 1E |
GRIP1 | Cryptophthalmos syndrome |
GRK1 | Oguchi disease 2 |
GRM6 | Congenital stationary night blindness, type 1B |
GRN | Ceroid lipofuscinosis, neuronal, 11 |
GSN | Meretoja syndrome |
GUCA1A | Cone dystrophy 3 |
GUCA1B | Retinitis pigmentosa 48 |
GUCY2D | Leber congenital amaurosis 1; Cone-rod dystrophy 6 |
HARS | Usher syndrome, type 3B |
HCCS | Linear skin defects with multiple congenital anomalies 1 |
HMX1 | Oculoauricular syndrome |
HSF4 | Cataract, zonular |
IDH3B | Retinitis pigmentosa 46 |
IFT140 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia |
IMPDH1 | Retinitis pigmentosa 10; Leber congenital amaurosis 11 |
IMPG1 | Macular dystrophy, vitelliform, 4 |
IMPG2 | Retinitis pigmentosa 56; Macular dystrophy, atypical vitelliform |
INVS | Infantile nephronophthisis |
ITM2B | Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
IQCB1 | Senior-Loken syndrome 5 |
JAG1 | Alagille syndrome 1 |
JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
KARS1 | Deafness, autosomal recessive 89 |
KCNJ13 | Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration |
KIF11 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
KIF7 | Acrocallosal syndrome, Schinzel type |
KIF21A | Fibrosis of extraocular muscles, congenital, 1 |
KLHL7 | Retinitis pigmentosa 42 |
KRT12 | Meesman’s corneal dystrophy |
KRT3 | Meesman’s corneal dystrophy |
LAMA1 | Poretti-boltshauser syndrome |
LCA5 | Leber congenital amaurosis 5 |
LHFPL5 | Deafness, autosomal recessive 67 |
LIM2 | Cataract 19, multiple types |
LOXHD1 | Deafness, autosomal recessive 77 |
LRAT | Leber congenital amaurosis 14 |
LRP5 | Exudative vitreoretinopathy 4 |
LZTFL1 | Bardet-Biedl syndrome 17 |
MAK | Retinitis pigmentosa 62 |
MERTK | Retinitis pigmentosa 38 |
MFN2 | Hereditary motor and sensory neuropathy with optic atrophy |
MFRP | Microphthalmia, isolated 5; Nanophthalmos 2 |
MFSD8 | Macular dystrophy with central cone involvement |
MIP | Cataract 15, multiple types |
MKKS | Bardet-Biedl syndrome 6 |
MKS1 | Bardet-Biedl syndrome 13 |
MTTP | Abetalipoproteinaemia |
MVK | Mevalonic aciduria |
MYO7A | Usher syndrome, type 1 |
MYOC | Primary open angle glaucoma juvenile onset 1 |
NAA10 | Lenz microphthalmia syndrome |
NDP | Familial exudative vitreoretinopathy, X-linked; Atrophia bulborum hereditaria |
NHS | Nance-Horan syndrome; Cataract 40 |
NMNAT1 | Leber congenital amaurosis 9 |
NPHP1 | Joubert syndrome 4; Senior-Loken syndrome 1 |
NPHP3 | Adolescent nephronophthisis; Meckel syndrome 7 |
NPHP4 | Senior-Loken syndrome 4 |
NR2E3 | Retinitis pigmentosa 37; Enhanced s-cone syndrome |
NRL | Retinitis pigmentosa 27 |
NYX | Congenital stationary night blindness, type 1A |
OAT | Ornithine aminotransferase deficiency |
OFD1 | Retinitis pigmentosa 23; Joubert syndrome 10 |
OPA1 | Dominant hereditary optic atrophy; Autosomal dominant optic atrophy plus syndrome; Glaucoma, normal tension, susceptibility to |
OPA3 | Optic atrophy and cataract, autosomal dominant |
OPN1MW | Colorblindness, partial, deutan series; Cone monochromatism |
OTX2 | Microphthalmia syndromic 5 |
PANK2 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration |
PAX2 | Renal coloboma syndrome |
PAX6 | Aniridia 1; Irido-corneo-trabecular dysgenesis; Optic nerve hypoplasia, bilateral; Coloboma of optic disc |
PCDH15 | Usher syndrome, type 1F; Usher syndrome type ID/F, CDH23/PCDH15, digenic |
PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy |
PDE6A | Retinitis pigmentosa 43 |
PDE6B | Retinitis pigmentosa 40; Congenital stationary night blindness, autosomal dominant 2 |
PDE6C | Cone dystrophy 4 |
PDE6G | Retinitis pigmentosa 57 |
PDE6H | Retinal cone dystrophy 3A |
PDZD7 | Usher syndrome, type 2A; Usher syndrome type 2c, GPR98/PDZD digenic |
PEX7 | Peroxisome biogenesis disorder 9B |
PHOX2A | Fibrosis of extraocular muscles, congenital, 2 |
PHYH | Phytanic acid storage disease |
PIKFYVE | Fleck corneal dystrophy |
PITPNM3 | Cone-rod dystrophy 5 |
PITX2 | Iridogoniodysgenesis, dominant type; Axenfeld-Rieger syndrome type 1; Ring dermoid of cornea |
PITX3 | Anterior segment mesenchymal dysgenesis; Cataract, posterior polar, 4 |
PLA2G5 | Fleck retina, familial benign |
POC1B | Cone-rod dystrophy 20 |
PPT1 | Ceroid lipofuscinosis neuronal 1 |
PRCD | Retinitis pigmentosa 36 |
PRDM5 | Brittle cornea syndrome 2 |
PROM1 | Cone-rod dystrophy 12; Retinitis pigmentosa 41; Stargardt disease 4; Bull’s eye macular dystrophy |
PRPF3 | Retinitis pigmentosa 18 |
PRPF31 | Retinitis pigmentosa 11 |
PRPF6 | Retinitis pigmentosa 60 |
PRPF8 | Retinitis pigmentosa 13 |
PRPH2 | Choroidal dystrophy, central areolar 2; Retinitis pigmentosa 7; Patterned dystrophy of retinal pigment epithelium; Macular dystrophy, vitelliform, adult-onset; Pigmentary retinal dystrophy |
PRSS56 | Microphthalmia, isolated 6 |
RAB28 | Cone-rod dystrophy 18 |
RAX2 | Cone-rod dystrophy 11; Age-related macular degeneration 6 |
RBP3 | Retinitis pigmentosa 66 |
RBP4 | Microphthalmia, isolated, with coloboma 10; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome |
RD3 | Leber congenital amaurosis 12 |
RDH12 | Leber congenital amaurosis 13 |
RDH5 | Pigmentary retinal dystrophy |
RGR | Retinitis pigmentosa 44 |
RGS9 | Prolonged electroretinal response suppression |
RGS9BP | Prolonged electroretinal response suppression |
RHO | Pigmentary retinal dystrophy; Congenital stationary night blindness, autosomal dominant 1; Retinitis pigmentosa 4 |
RIMS1 | Cone-rod dystrophy 7 |
RLBP1 | Pigmentary retinal dystrophy; Bothnia retinal dystrophy; Newfoundland rod-cone dystrophy |
ROM1 | Retinitis pigmentosa 7 |
RP1 | Retinitis pigmentosa 1 |
RP1L1 | Occult macular dystrophy |
RP2 | Retinitis pigmentosa 2 |
RP9 | Retinitis pigmentosa 9 |
RPE65 | Leber congenital amaurosis 2; Retinitis pigmentosa 20 |
RPGR | Cone-rod dystrophy, X-linked 1; Macular degeneration, X-linked atrophic; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Retinitis pigmentosa 15 |
RPGRIP1 | Cone-rod dystrophy 13; Leber congenital amaurosis 6 |
RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 |
RS1 | Juvenile retinoschisis |
SAG | Oguchi’s disease; Retinitis pigmentosa 47 |
SDCCAG8 | Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 |
SEMA4A | Cone-rod dystrophy 2; Retinitis pigmentosa 35 |
SIX6 | Microphthalmia syndromic 3 |
SLC24A1 | Congenital stationary night blindness, type 1D |
SLC45A2 | Oculocutaneous albinism type 4 |
SLC4A11 | Corneal dystrophy, Fuchs endothelial, 4; Corneal dystrophy and perceptive deafness; Corneal endothelial dystrophy type 2 |
SNRNP200 | Retinitis pigmentosa 33 |
SOX2 | Microphthalmia syndromic 3 |
SPATA7 | Leber congenital amaurosis 3 |
STRA6 | Microphthalmia syndromic 9 |
TACSTD2 | Lattice corneal dystrophy type III |
TCTN1 | Joubert syndrome 13 |
TCTN2 | Joubert syndrome 24; Meckel syndrome type 8 |
TDRD7 | Cataract, autosomal recessive congenital 4 |
TEAD1 | Sveinsson chorioretinal atrophy |
TGFBI | Avellino corneal dystrophy; Corneal epithelial dystrophy; Groenouw corneal dystrophy type I; Lattice corneal dystrophy type I; Lattice corneal dystrophy type 3A; Reis-Bucklers’ corneal dystrophy; Thiel-Behnke corneal dystrophy |
TIMM8A | Mohr-Tranebjaerg syndrome |
TIMP3 | Sorsby fundus dystrophy |
TMEM126A | Optic atrophy 7 |
TMEM138 | Joubert syndrome 16 |
TMEM216 | Joubert syndrome 2; Meckel syndrome type 2 |
TMEM237 | Joubert syndrome 14 |
TMEM67 | COACH syndrome; Joubert syndrome 6; Meckel syndrome type 3 |
TNC | Deafness, autosomal dominant 56 |
TOPORS | Retinitis pigmentosa 31 |
TPP1 | Ceroid lipofuscinosis neuronal 2 |
TREX1 | Vasculopathy, retinal, with cerebral leukodystrophy |
TRIM32 | Bardet-Biedl syndrome 11 |
TRPM1 | Congenital stationary night blindness, type 1C |
TSPAN12 | Exudative vitreoretinopathy 5 |
TTC21B | Nephronophthisis 12 |
TTC8 | Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 |
TUBB3 | Fibrosis of extraocular muscles, congenital, 3A |
TUBB2B | Cortical dysplasia, complex, with other brain malformations 7 |
TTLL5 | Cone-rod dystrophy 19 |
TULP1 | Retinitis pigmentosa 14; Leber congenital amaurosis 15 |
TYR | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness |
TYRP1 | Oculocutaneous albinism type 3 |
UBIAD1 | Schnyder crystalline corneal dystrophy |
UNC119 | Cone-rod dystrophy |
USH1C | Usher syndrome, type 1C |
USH1G | Usher syndrome, type 1G |
USH2A | Usher syndrome, type 2A; Retinitis pigmentosa 39 |
VAX1 | Microphthalmia, syndromic 11 |
VCAN | Wagner syndrome |
VIM | Cataract 30 |
VPS13B | Cohen syndrome |
VSX1 | Craniofacial anomalies and anterior segment dysgenesis syndrome; Keratoconus 1 |
VSX2 | Microphthalmia, isolated 2; Microphthalmia, isolated, with coloboma 3 |
WDPCP | Bardet-Biedl syndrome 15 |
WDR19 | Senior-Loken syndrome 8 |
WFS1 | Cataract 41 |
WHRN | Usher syndrome, type 2D |
YAP1 | Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation |
ZEB1 | Corneal dystrophy, Fuchs endothelial, 6; Posterior polymorphous corneal dystrophy 3 |
ZNF469 | Corneal fragility keratoglobus, blue sclerae and joint hypermobility |
ZNF513 | Retinitis pigmentosa 58 |
ZNF644 | Myopia 21, autosomal dominant |
Eye Diseases NGS panel of 294 genes
Published 04/04/2017Eye 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 |
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 |
Ordering information: | Go to online ordering or download sample submission form |
Updated Stargardt disease APEX panel
Published 22/10/2014Stargardt Disease APEX micoarray now detects 647 mutations in ABCA4 gene.
NGS panel including ABCA4, CNGB3, ELOVL4, and PROM1 genes is also available for Stargardt disease diagnostics.
Stargardt Disease
Published 22/04/2010Stargardt Disease
NGS panel
Genes (full coding region): |
ABCA4, CNGB3, ELOVL4, PROM1 |
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 |
Ordering information: | Go to online ordering or download sample submission form |
Sequencing of the ABCA4 gene
Genes (full coding region): |
ABCA4 |
Lab method: | Next generation sequencing |
TAT: | 2-4 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 |
Ordering information: | Go to online ordering or download sample submission form |
Deletion/duplication analysis of the ABCA4 gene
Genes: | ABCA4 |
Lab method: | MLPA |
TAT: | 4-6 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 |
Ordering information: | Go to online ordering or download sample submission form |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation
Autosomal recessive Stargardt disease is a juvenile-onset macular dystrophy associated with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks around the macula and/or in the central and near-peripheral areas of the retina.
Asper Ophthalmics
Published 16/04/2010Asper Ophthalmics
Achromatopsia
Age-Related Macular Degeneration
Aniridia
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cataract
Choroideremia
Cone-Rod Dystrophy
Congenital Fibrosis of Extraocular Muscles
Congenital Stationary Night Blindness
Corneal Dystrophy
Ectopia Lentis
Eye Diseases NGS panel of 294 genes
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
Optic Atrophy
Papillorenal Syndrome
Retinitis pigmentosa
Retinoblastoma
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinoschisis
Whole Exome Sequencing
Asper Ophthalmics is a comprehensive collection of genetic tests targeted at the diagnostics of a wide variety of hereditary ocular disorders, including retinal disorders, corneal dystrophies, and age related ophthalmic conditions.
Our genetic tests assist clinicians in confirming diagnoses and informing patients about their risks for inherited eye diseases.