S No Panel Genes Covered Sample type TAT
1 Alport Syndrome COL4A3, COL4A4, COL4A5 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
2 Atypical hemolytic uremic
syndrome panel
ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2,
CFHR3, CFHR4, CFHR5, CFI, DGKE, PIGA, THBD
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
3 Bartter Syndrome panel ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB,
CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10,
KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1,
SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
4 Focal Glomerulonephrosis ACTN4, CD2AP, INF2, NPHS1, NPHS2, TRPC6, WT1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
5 Meckel syndrome MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L,
CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
6 Nephronophthisis NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1,
CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8,
ZNF423
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
7 Nephrotic syndrome ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
8 Polycystic kidney BICC1, PKD1, PKD2, PKHD1, NOTCH2 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
9 Pseudohypoaldosteronism CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B,
SCNN1G, WNK1, WNK4
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
10 Renal cancer EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF,
MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB,
SDHD, TSC1, TSC2, VHL, WT1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
11 Urea cycle disorder ARG1, ASL, ASS1, CPS1, NAGS, OTC 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
12 Polycystic kidney disease gene
panel
ARPKD PKHD1/ADPKD PKD1 & PKD2 2 ug DNA or 2ml EDTA Blood 6 weeks
13 Karyotyping Analysis (single) N/A Sodium Heparin (Na Heparin)
Blood (3 ml in green capped
vacutainer)
2 weeks
14 Karyotyping Analysis (Couple) N/A Sodium Heparin (Na Heparin)
Blood (3 ml in green capped
vacutainer)
2 weeks
15 Chromosomal CGH microarray
– 750K Baby Array
N/A Minimum 3 ml EDTA Blood
(postnatal sample); POC/ abortus
material in sterile saline
solution
4 weeks
16 Whole Exome Sequencing (WES) ~23,000 protein coding genes of the genome 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
17 Whole Exome Sequencing (WES)
Trio
~23,000 protein coding genes of the genome 1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
18 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA or 4 ml
EDTA Blood (collected in 2
separate tubes)
8 weeks
19 Targeted single exon mutation
analysis
Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks