S No Panel Genes Covered Sample type TAT
1 Colon disease panel APC, BMPR1A, CDH1, CHEK2, EPCAM,
MLH1, MSH2, MSH6, MUTYH, NTHL1,
PMS2, POLD1, POLE, PTEN, SMAD4,
STK11, TP53
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
2 Lynch syndrome or Colon cancer non-
polyposis
MSH2, MLH1, MSH6, PMS2, EPCAM 2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
3 Colon cancer with polyps panel APC, BMPR1A, MUTYH, PTEN, SMAD4,
STK11
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
4 Gastric cancer BMPR1A, CDH1, EPCAM, MLH1, MSH2,
MSH6, PMS1, PMS2, SMAD4
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
5 Hirschsprung disease ECE1, EDN3, EDNRB, GDNF, KIAA1279,
NRG1, NRTN, RET, SOX10, ZEB2
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
6 Holoprosencephaly CDON, FGF8, GLI2, GLI3, PTCH1, SHH,
SIX3, TGIF1, ZIC2
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
7 Intrahepatic cholestasis ABCB11, ABCB4, ATP8B1, UGT1A1 2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
8 Kallmann syndrome/Gonadotropin-
releasing hormone deficiency
CHD7, FGF8, FGFR1, GNRH1, GNRHR,
HESX1, KAL1, KISS1, KISS1R, PROK2,
PROKR2, SEMA3A, TAC3, TACR3
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
9 Pancreatic cancer panel APC, ATM, BMPR1A, CDKN2A, EPCAM,
MLH1, MSH2, MSH6, PALB2, PMS1, PMS2,
PRSS1, SMAD4, STK11
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
10 Pancreatitis CFTR, CPA1, CTRC, PRSS1, SPINK1 2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
11 PGL / PCC / GIST GDNF, KIF1B, MAX, MEN1, NF1, RET,
SDHA, SDHAF2, SDHB, SDHC, SDHD,
TMEM127, TP53, VHL
2 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
12 Karyotyping Analysis (single) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
13 Karyotyping Analysis (Couple) N/A Sodium Heparin (Na Heparin) Blood
(3 ml in green capped vacutainer)
2 weeks
14 Chromosomal CGH microarray – 750K
Baby Array
N/A Minimum 3 ml EDTA Blood (postnatal
sample); POC/abortus material in
sterile saline solution
4 weeks
15 Whole Exome Sequencing (WES) ~23,000 protein coding genes of
the genome
1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
16 Whole Exome Sequencing (WES) Trio ~23,000 protein coding genes of
the genome
1 ug DNA or 2 ml EDTA Blood 7 – 8 weeks
17 Whole Genome Sequencing (WGS) All genes in the genome Minimum 4ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
8 weeks
18 Targeted single exon mutation
analysis
Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks