產品編號
檢測標的
MTQ100v1
MTHFR, c.677C>T
FXS100v1FXS100v2
FMR1, CGG repeats in exon1
HFE48
HFE, H63D/S65C/C282Y
TLS48
HBA1 and HBA2, α3.7/α4.2/α20.5/SEA/FIL/MED/THAI HBB, full exons
HTD100
HTT, CAG repeats in exon1
SMQ100v1SMQ100v2SMQ100v3
SMN1, gene copies
SMN2, gene copies
CYF-48A (Index 1-24)CYF-48B (Index 25-48)CYF-48C (Index 49-72)CYF-48D (Index 73-96)
CFTR, full exons
HBRCA-48A (Index 1-24)HBRCA-48B (Index 25-48)HBRCA-48C (Index 49-72)HBRCA-48D (Index 73-96)
BRCA1 and BRCA2, hotspots
EGFR-48A (Index 1-24)EGFR-48B (Index 25-48)EGFR-48C (Index 49-72)EGFR-48D (Index 73-96)
EGFR, exon18/19/20/21, hotspots
DFN-48A (Index 1-24)DFN-48B (Index 25-48)DFN-48C (Index 49-72)DFN-48D (Index 73-96)
GJB2, GJB3 and GJB6, full CDS
OTOF, SLC16A4 and MT, hotspots
FAP-48A (Index 1-24)FAP-48B (Index 25-48)FAP-48C (Index 49-72)FAP-48D (Index 73-96)
APC and MUTYH, full exons
RAS-48A (Index 1-24)RAS-48B (Index 25-48)RAS-48C (Index 49-72)RAS-48D (Index 73-96)
BRAF, KRAS, and NRAS, hotspots
LGP100
GBA, rs421016
LRRK2, rs33949390/rs34778348