List of diseases covered by the NGS panel of 294 genes

List 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
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

Usher Syndrome

Usher Syndrome
NGS panel

(full coding
ABHD12, ADGRV1 (GPR98), CDH23, CIB2, CLRN1, COL4A6, DSPP (excluding exon 5), GIPC3, HARS1, KARS1, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, USH1G, WHRN (DFNB31)

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

Deletion/duplication analysis

Genes: USH2A, PCDH15

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 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

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

Usher syndrome is a combination of retinitis pigmentosa and sensorineural hearing loss with or without vestibular dysfunction. Usher syndrome represents 50% of all cases with deafness and blindness. Usher syndrome is inherited in an autosomal recessive manner. Three major clinical types can be distinguished. Usher syndrome type I (USH1) is characterized by severe to profound congenital hearing loss, RP and vestibular areflexia. Patients with Usher syndrome type II (USH2) have moderate to severe hearing loss, RP and normal or variable vestibular function. Patients with Usher syndrome type III (USH3) have progressive hearing loss, RP and variable vestibular function.