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Test Name

Cardiac channelopathy gene panel

Inclusive Genes/Special Instructions

ABCC9, AKAP9, ALG10, ANK2, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CASQ2, CAV3, DPP6, GATA4, GJA5, GNAI2, GPD1L, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NKX2-5, NPPA, NUP155, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TRDN, TRPM4

Specimen Type

Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid

Container

EDTA anticoagulated peripheral blood; DNA in sealed eppendorf tube; amniotic fluid in a sterile falcon tube/cultured cells; CVS in a sterile 15ml falcon tube with RPMI1640+10% FBS+ 1% antibiotic

Transportation Temperature

20-25⁰C

CVS at 2-8⁰C

Volume

Minimum 3ml of peripheral blood; minimum 1 microgram of DNA (concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency

Methodology

NGS

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