S No Panel Genes Covered Sample type TAT
1 Aortic aneurysm, Hereditary
thoracic panel
MYH11, ACTA2, TGFBR1, TGFBR2, FBN1,
COL3A1, SMAD3, CBS, FBN2, SLC2A10,
MYLK, TGFB2, TGF
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
2 Arrhythmia, hereditary panel AKAP9, ANK2, CACNA1C, CACNB2, CASQ2,
CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5,
KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1,
NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B,
SCN5A, SNTA1, TGFB3, TMEM43
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
3 Arrhythmogenic Right Ventricular
Cardiomyopathy panel
DSP, DSG2, DSC2, JUP, PKP2, RYR2,
TGFB3, TMEM43
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
4 Brugada syndrome panel CACNA1C, CACNB2, GPD1L, HCN4, KCNE3,
SCN1B, SCN3B, SCN5A, SLMAP
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
5 Cardiomyopathy dilated panel ABCC9, ACTC1, ACTN2, BAG3, CSRP3,
DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMP2,
LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN,
PSEN1, MT-ND1, MT-ND5, MT-ND6, MT-TD, MT-TH,
MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ,
MT-TS1, MT-TS2, PSEN2, RBM20, SCN5A, SDHA,
SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2,
TPM1, TTN, TTR, VCL
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
6 Hypertrophic Cardiomyopathy ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2,
LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3,
MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4,
TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
7 Catecholaminergic polymorphic
ventricular tachycardia panel
RYR2, CASQ2, KCNJ2 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
8 Congenital heart defects CFC1, CITED2, CRELD1, FOXH1, GATA4,
GATA6, GDF1, NKX2-5, NOTCH1, TBX1, TBX20,
ZFPM2
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
9 Familial hypercholesterolemia APOB, GHR, LDLR, PCSK9 2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
10 Heterotaxy ACVR2B, CFAP53, CFC1, CRELD1, FOXH1,
GDF1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
11 Hyperinsulinemic hypoglycemia ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11,
SLC16A1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
12 Hypomagnesemia CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1,
SLC12A3, TRPM6
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
13 Long QT syndrome AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2,
KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
14 MODY ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A,
INS, KCNJ11, KLF11, NEUROD1, NKX2-2, PAX4, PDX1,
RFX6, ZFP57
2 ug DNA or 2ml EDTA Blood 7 – 8 weeks
15 Clopidogrel Dosage CYP2C19*2, CYP2C19*3 2ml EDTA Blood/ 1ug DNA 7 days
16 Warfarin Dosage VKORC1 (c.-1639 G>A), CYP2C9*2, CYP2C9*3,
CYP2C9*13
2ml EDTA Blood/ 1ug DNA 7 days
17 Clinical Exome Sequencing Screens for mutations in the coding regions of
6000 known disease genes (in OMIM database)
Minimum 2 ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
4 – 6 weeks
18 Whole Exome Sequencing (WES) The WES screens for mutations in the
coding regions (2%) of > 23,000 genes
1 ug DNA or 2ml EDTA Blood 7 – 8 weeks
19 Whole Exome Sequencing (WES Trio) The WES screens for mutations in the
coding regions (2%) of > 23,000 genes
1 ug DNA or 2ml EDTA Blood 7 – 8 weeks
20 Whole Genome Sequencing (WGS) Sequences 95% – 98% of total genetic material Minimum 4ug DNA or 4 ml EDTA Blood
(collected in 2 separate tubes)
6 – 8 weeks
21 Targeted single exon mutation analysis Single exon of the indicated gene EDTA Blood or DNA 3 – 4 weeks
22 DNA Isolation from Blood NA 2 ml EDTA Blood 1 week