S No Panel Genes Covered Sample type TAT
1 Bardet Biedl panel ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4,
BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS,
MKS1, SDCCAG8, TRIM32, TTC8, WDPCP
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
2 Cataract AGK, CRYAA, CRYAB, CRYBB1, CRYBB3, CTDP1,
FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
3 Cone-rod and cone dystrophy ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4,
CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX,
GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1,
PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1,
SEMA4A, UNC119
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
4 Flecked retina CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B 2 ug DNA or 2ml EDTA Blood 7 – 8weeks
5 Glaucoma ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1,
LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2,
PITX3, SBF2, WDR36
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
6 Leber congenital amaurosis AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1,
IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12,
RPE65, RPGRIP1, SPATA7, TULP1
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
7 Leber optic atrophy MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2,
MT- ND4, MT-ND4L, MT-ND5, MT-ND6
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
8 Microphthalmia ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2,
RAX, SIX6, SOX2, STRA6, TENM1, TENM3, VSX2
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
9 Ophthalmoplegia (progressive external) C10ORF2, DNA2, OPA1, POLG, POLG2, RRM2B,
SLC25A4, TYMP
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
10 Optic atrophy AUH, C12ORF65, CISD2, NDUFS1, OPA1,
OPA3, POLG, SPG7, TIMM8A, TMEM126A, WFS1
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
11 Retinitis pigmentosa, autosomal
dominant
ABCA4, BEST1, CA4, CRX, CLRN1, FSCN2,
GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3,
PRPF31, PRPF6, PRPF8, PRPH2, RDH12, RGR,
RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR,
SEMA4A, SNRNP200, TOPORS
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
12 Retinitis pigmentosa, autosomal
recessive
ABCA4, ARL6, BBS1, 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,
SEMA4A, SPATA7, TTC8, TULP1, USH2A, ZNF513
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
13 Stargardt disease ABCA4, BEST1, C1QTNF5, CDH3, CNGB3,
ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1,
RPGR, TIMP3
2 ug DNA or 2ml EDTA Blood 7 – 8weeks
14 Vitreoretinopathy and Wagner
syndrome
COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN 2 ug DNA or 2ml EDTA Blood 7 – 8weeks
15 Karyotyping Analysis
(single)
N/A Sodium Heparin (Na Heparin)Blood (3 ml
in green capped vacutainer)
2 weeks
16 Karyotyping Analysis
(Couple)
N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
17 Chromosomal CGH microarray
– 750K Array
N/A Minimum 3 ml EDTA Blood (postnatal
sample); POC/ abortus material in
sterile saline solution
4 weeks
18 Whole Exome Sequencing (WES) ~23,000 protein coding genes of the genome 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
19 Whole Exome Sequencing (WES)
Trio
~23,000 protein coding genes of the genome 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
20 Whole Genome Sequencing
(WGS)
All genes in the genome Minimum 4ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
8 weeks
21 Targeted single exon mutation
analysis
Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks